Article
Bi-allelic PAGR1 variants are associated with microcephaly and a severe neurodevelopmental disorder: Genetic evidence from two families.
American journal of medical genetics. Part A - 1 Jan 2022
Daum Hagit, Ganapathi Mythily, Hirsch Yoel, Griffin Emily L, LeDuc Charles A, Hagen Jacob, Yagel Simcha, Meiner Vardiella, Chung Wendy K, Mor-Shaked Hagar
Abstract excerpt
Exome and genome sequencing were used to identify the genetic etiology of a severe neurodevelopmental disorder in two unrelated Ashkenazi Jewish families with three affected individuals. The clinical findings included a prenatal presentation of microcephaly, polyhydramnios and clenched hands while postnatal findings included microcephaly, severe developmental delay, dysmorphism, neurologic deficits, and death in...
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