Dr. Lin is a medical geneticist (trained in pediatric cardiology) who specializes in the care of people with rare genetic syndromes especially Turner syndrome, HHT, Myhre syndrome, Costello syndrome, and craniofacial disorders. She works first as diagnostician, and then serves as care coordinator for the patient, family, PCP and specialists to create a "genetics medical home". Her teams try to empower people, especially those making a transition to independence and adult care.




Centers & Specialties

MassGeneral Hospital for Children

Clinical Interests
  • Myhre syndrome
  • Turner's syndrome
  • Hereditary Hemorrhagic Telangiectasia (HHT)
  • Branchio-oculo-facial syndrome (BOFS)
  • Rasopathies: Costello, CFC & Noonan Syndromes
  • CHARGE syndrome
  • Heterotaxy
  • Genetics
  • Genetic testing
Medical Education
  • MD, Thomas Jefferson University
  • Residency, Children's Hospital of Pittsburgh
  • Fellowship, UCLA Medical Center|Fellowship, West Penn Hospital
Board Certifications
  • Pediatrics
  • Clinical Genetics (M.D.)
Foreign Languages
  • French
  • Boston: Massachusetts General Hospital
Existing Patients
Patient Gateway
Insurances Accepted
  • Aetna Health Inc.
  • AllWays Health (NHP) - ACD
  • AllWays Health (NHP) - PBO
  • Beech Street
  • Blue Cross Blue Shield - Blue Care 65
  • Blue Cross Blue Shield - Indemnity
  • Blue Cross Blue Shield - Managed Care
  • Blue Cross Blue Shield - Partners Plus
  • BMC HealthNet Mass Health MCO/ACO
  • Cigna (PAL #'s)
  • Commonwealth Care Alliance
  • Fallon Community HealthCare
  • Great-West Healthcare (formally One Health Plan)
  • Harvard Pilgrim Health Plan - ACD
  • Harvard Pilgrim Health Plan - PBO
  • Health Care Value Management (HCVM)
  • Humana/Choice Care PPO
  • MassHealth
  • Medicare
  • Medicare - ACD
  • OSW - Connecticut
  • OSW - Maine
  • OSW - New Hampshire
  • OSW - Rhode Island
  • OSW - Vermont
  • Private Health Care Systems (PHCS)
  • Railroad Medicare
  • Railroad Medicare - ACD
  • Senior Whole Health
  • TriCare
  • Tufts Health Plan
  • Unicare
  • United Healthcare (non-HMO) - ACD
  • United Healthcare (non-HMO) - PBO
  • Well Sense Pediatrics

Note: This provider may accept more insurance plans than shown; please call the practice to find out if your plan is accepted.

Patient Age Group
Adult and Pediatric
Provider Gender


Angela E. Lin, MD is a Board-certified pediatrician and clinical geneticist who is dedicated to the care of people with physical differences, especially syndromes which involve the cardiovascular system. She is active in numerous research projects, and has published over 100 articles and chapters. She  is committed to teaching families and trainees.

Dr. Lin attended St. Joseph's University and Thomas Jefferson University in Philadelphia, and completed a pediatric residency at Children's Hospital of Pittsburgh. After a fellowship in pediatric cardiology at UCLA, and additional training at the Children's Hospital of Philadelphia, she completed a genetics fellowship at the West Penn Hospital in Pittsburgh. From 1990-1994, she worked at the National Birth Defects Center in Boston. After a maternity leave, she joined the Massachusetts General Hospital in 1997, where she is a Staff Geneticist, and a Professor in Pediatrics, Part-Time at Harvard Medical School.

In 2011, she and Dr. Lynne Levitsky started the multi-specialty Turner Syndrome Clinic, joined in 2012 by Dr. Frances Hayes (REU). She has been a member of the Professional Advisory Board of the Turner Syndrome Society of the United States for 10 years. She co-founded the MGH HHT Center in 2010, and now, as a Center of Excellence, directs the pediatric and genetics sections. Recently, she organized a national clinic committed to Myhre Syndrome, with Dr. Mark Lindsay from pediatric cardiology.  Dr. Lin also developed a clinical cardiogenetics service, sees patients with "rasopathy" syndromes and works closely with the craniofacial team. 

Dr. Lin also works in birth defects surveillance at the MA Dept. of Public Health, Birth Defects Monitoring Program. She is also an Associate Editor of the American Journal of Medical Genetics. She is committed to teaching trainees at all levels.

Research & Publications

Research Summary

Dr. Lin is a medical geneticist clinical researcher who has delineated the clinical and molecular aspects of several malformation syndromes in major reviews (CHARGE, BOFS, Sensenbrenner, MMF embryopathy), as well as contributing cases to define the molecular basis of new syndromes (Bosma syndrome/arhinia, Myhre syndrome, macrocephly-capillary malformation, auriculo-condylar syndrome, deletion 2q23.1). Her specialty has been studying the pattern and frequency of cardiac abnormalities, especially Costello syndrome (and other rasopathy syndromes) and Turner syndrome, and most recently, the striking pattern in Myhre syndrome (SMAD4 mutations).

Dr. Lin is a frequent participant in research about birth defects, especially those which are identified through newborn surveillance. These projects have been conducted at the Brigham-Women's Malformation Surveillance Program, and as a consultant to the Massachusetts Center for Birth Defects Prevention. As part of the National Birth Defecs Prevention Study (1997-2013), Dr. Lin has focused on congenital heart defects (CHDs), especially heterotaxy. She is a frequent collaborator in projects studying risk factors for CHDs, classification of CHDs, and currently, is contributing to the analysis of critical CHDs, and CHD prevalence in adults.  Through her participation as a consultant at the MA DPH, she is assisting in the Zika virus rapid ascertainment program.


View my most recent publications at PubMed

(Please note, PubMed lists another author named "Lin AE")

Select Publications:

  •  Milunsky J, . Lin A. 2008. TFAP2A mutations result in Branchio-Oculo-Facial syndrome. AJHG 82:1171.
  • Lin AE, et al. 2011. Clinical, pathological and molecular analyses of cardiovascular abnormalities in Costello syndrome: A Ras/MAPK pathway syndrome. AJMG 155:486.
  • Lin AE, et al. 2013. Sensenbrenner syndrome (Cranioectodermal Dysplasia): Clinical and molecular analyses of 39 patients including two new patients. AJMG Part A 161A:2762.
  • Lin AE, et al., 2014. Laterality Defects in the National Birth Defects Prevention Study.AJMG 164A:2581
  • Lin AE, et al. 2016. Proposal for a national registry to monitor women with Turner syndrome seeking assisted reproductive technology. Fert Steril 105:1446.
  • Lin AE, et al., 2016. Gain-of-function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes. AJMG 170:2617.
  • Levin M, ....Lin AE. 2018. Nonreentrant tachycardia occurs independently of hypertrophic cardiomyopathy in RASOpathy syndromes. AJMG 1-12.


  • Gravholt CH, ....Lin AE, ... Backelajuw PF (19 authors). 2017. Clinical Practice Guidelines for the Care of Girls and Women with Turner Syndrome. Eur J Endocrinol 177:G1-70.

Reviews (GeneReviews, abbreviated citation)

  • Lin AE, Haldemann-Englert C, Milunsky JM. Branchio-Oculo-Facial syndrome (March 2018)
  • Gripp KW, Lin AE.  Costello syndrome (May 2009)
  • Starr LJ, Lindor NM, Lin A.  Myhre syndrome (April 2017)




News & Events

  • Finding a medical home away from home with a rare disease diagnosis: Anna's story

    At 16, Anna Young was diagnosed with Myhre Syndrome, a very rare genetic condition. Since coming to the Myhre Syndrome Clinic at MGHfC, she has found her place in the world and learned the skills to thrive as a young adult.

  • Patient ambassador is a guiding light for the Myhre Syndrome Clinic

    April Lanord's son, Alec Bruneau, was considered a medical mystery until he received a diagnosis of Myhre Syndrome, a very rare genetic condition, during childhood. Since coming to the Myhre Syndrome Clinic, Alec has found a new sense of confidence and comfort in who he is. April was also inspired to become an ambassador for the clinic, helping other families get oriented to Boston and MGHfC.

  • Rosie's Story: Multidisciplinary Care Through Life's Stages

    Rosie Mahoney has Turner syndrome, but doesn't let it stop her from dreaming big. With help from the Turner Syndrome Clinic at MassGeneral Hospital for Children, Rosie develops the skills she needs to achieve her dreams.

  • Research of Angela E. Lin, MD

    In addition to practicing clinical genetics at MGHfC, I conduct clinical research in the field of birth defects surveillance. Since 1997, I have been the clinical geneticist consultant to the Massachusetts Department of Public Health Birth Defects Monitoring Program (BDMP).

  • Turner Syndrome Research Network (TRN) is Formed

    A first step is taken at a national level to integrate the shared goals of those interested in Turner syndrome.

  • Women with Turner Syndrome Tell Their Stories

    Boston Globe article profiles Miriam Beit-Aharon, a patient in the MGH Turner Syndrome Clinic, whose mother, Claudette, edited a collection of essays of women living with Turner syndrome. The article mentions Co-Director Dr. Angela Lin, and her interest in the use of IVF for women with Turner syndrome.

  • Turner Syndrome Clinic Offers a Lifetime of Coordinated Multispecialty Care

    Opened in October of 2011 under the leadership of medical geneticist Angela Lin, MD, and Lynne L. Levitsky, MD, chief of pediatric endocrinology at MassGeneral Hospital for Children (MGHfC) and joined by reproductive endocrinologist Frances Hayes, MD, in 2013, the Turner Syndrome Clinic at MGHfC provides comprehensive evaluation and individualized care for newborns, toddlers and adolescents with Turner syndrome.


Medical Genetics Unit/MGHfC
175 Cambridge Street
Fifth floor
Boston, MA 02114
Phone 1: 617-726-1561
Phone 2: 617-726-1562
Fax: 617-726-1566