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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

Daum H, Ganapathi M, Hirsch Y, Griffin EL, LeDuc CA, Hagen J, Yagel S, Meiner V, Chung WK, Mor-Shaked H.
PMID: 34585832
Am J Med Genet A. 2022 Jan;188(1):336-342. doi: 10.1002/ajmg.a.62513. Epub 2021 Sep 29.

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...

Showing 325 to 325 of 325 entries