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Article

Further expansion and confirmation of phenotype in rare loss of YWHAE gene distinct from Miller-Dieker syndrome.

American journal of medical genetics. Part A - 1 Feb 2023

Baker Elizabeth K, Brewer Casey J, Ferreira Leonardo, Schapiro Mark, Tenney Jeffrey, Wied Heather M, Kline-Fath Beth M, Smolarek Teresa A, Weaver K Nicole, Hopkin Robert J

Abstract excerpt

Deletion of 17p13.3 has varying degrees of severity on brain development based on precise location and size of the deletion. The most severe phenotype is Miller-Dieker syndrome (MDS) which is characterized by lissencephaly, dysmorphic facial features, growth failure, developmental disability, and often early death. Haploinsufficiency of PAFAH1B1 is responsible for the characteristic lissencephaly in MDS. The...

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Identifiers

PMID: 36433683
DOI: 10.1002/ajmg.a.63057
PMCID: PMC10099970

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Further expansion and confirmation of phenotype in rare loss of YWHAE gene distinct from Miller-Dieker syndrome.PMID 36433683Read ↗

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