Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism
نویسندگان
چکیده
منابع مشابه
Congenital Cataracts – Facial Dysmorphism – Neuropathy
Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome is a complex developmental disorder of autosomal recessive inheritance. To date, CCFDN has been found to occur exclusively in patients of Roma (Gypsy) ethnicity; over 100 patients have been diagnosed. Developmental abnormalities include congenital cataracts and microcorneae, primary hypomyelination of the peripheral nervous sys...
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ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 2018
ISSN: 0002-9297
DOI: 10.1016/j.ajhg.2018.11.001