A Homozygous Missense Variant in Hedgehog Acyltransferase (HHAT) Gene Associated with 46,XY Gonadal Dysgenesis.

Inas Mazen,Alaa Kamel,Kenneth McElreavey,Anu Bashamboo,Aya Elaidy,Mohamed S Abdel-Hamid

Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation（2022）

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摘要

Our results expand the phenotypic spectrum associated with HHAT variants to include 46,XY gonadal dysgenesis and reinforce the role of exome sequencing in unraveling new genes that play a pivotal role in sexual development.

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关键词

46,XY DSD,Egyptian patient,Exome sequencing,Hedgehog acyltransferase,Missense variant

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