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Article

Understanding the phenotypic spectrum of ASXL-related disease: Ten cases and a review of the literature.

American journal of medical genetics. Part A - 1 Jun 2021

Cuddapah Vishnu Anand, Dubbs Holly A, Adang Laura, Kugler Steven L, McCormick Elizabeth M, Zolkipli-Cunningham Zarazuela, Ortiz-González Xilma R, McCormack Shana, Zackai Elaine, Licht Daniel J, Falk Marni J, Marsh Eric D

Abstract excerpt

Over the past decade, pathogenic variants in all members of the ASXL family of genes, ASXL1, ASXL2, and ASXL3, have been found to lead to clinically distinct but overlapping syndromes. Bohring-Opitz syndrome (BOPS) was first described as a clinical syndrome and later found to be associated with pathogenic variants in ASXL1. This syndrome is characterized by developmental delay, microcephaly, characteristic...

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Identifiers

PMID: 33751773
DOI: 10.1002/ajmg.a.62156
PMCID: PMC8842511

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Understanding the phenotypic spectrum of ASXL-related disease: Ten cases and a review of the literature.PMID 33751773Read ↗

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