article_metadata: Noelia Baz-Redón Laura Soler-Colomer Mónica Fernández-Cancio Sara Benito-Sanz Marta Garrido Teresa Moliné María Clemente Núria Camats-Tarruella Diego Yeste
article_metadata: 10.3389/fendo.2022.957969
article_metadata: Front Endocrinol (Lausanne)
article_metadata: 2022 Oct 11;13:957969.
article_metadata: 46,xy different sexual development hhat case report minigene studies syndromic dsd
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/36303863/
article_metadata: Gonadal Dysgenesis Microcephaly / complications Microcephaly / genetics
article_metadata: Gonadal Dysgenesis Microcephaly / complications Microcephaly / genetics Case Reports Research Support, Non-U.S. Gov't Acyltransferases / genetics Hedgehog Proteins / genetics Hedgehog Proteins / metabolism Humans Sexual Development Thumb Hedgehog Proteins HHAT protein, human Acyltransferases
article_metadata: PMC9592858
article_metadata: 36303863
article_metadata: Novel variant in HHAT as a cause of different sex development with partial gonadal dysgenesis associated with microcephaly, eye defects, and distal phalangeal hypoplasia of both thumbs: Case report
article_metadata: 2022