American journal of medical genetics. Part C, Seminars in medical genetics
Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self-Reported Data.
Mary K Young, Armelle Pindon, Maggie R Brand, Kate Wears, Katherine H Young, Alyssa Mendel, Michael J Lyons
Published: 202510.1002/ajmg.c.32159
Abstract
Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The nat…
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