Functional analysis of novel desert hedgehog gene variants improves the clinical interpretation of genomic data and provides a more accurate diagnosis for patients with 46, XY differences of sex development

BACKGROUND: Desert hedgehog (DHH) gene variants are known to cause 46, XY differences/disorders of sex development (DSD). We have identified six patients with 46, XY DSD with seven novel DHH gene variants. Many of these variants were classified as variants of uncertain significance due to their hete...

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Vydáno v:J Med Genet
Hlavní autoři: Ayers, Katie, van den Bergen, Jocelyn, Robevska, Gorjana, Listyasari, Nurin, Raza, Jamal, Atta, Irum, Riedl, Stefan, Rothacker, Karen, Choong, Catherine, Faradz, Sultana M H, Sinclair, Andrew
Médium: Artigo
Jazyk:Inglês
Vydáno: BMJ Publishing Group 2019
Témata:
Diagnostics
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6591740/
https://ncbi.nlm.nih.gov/pubmed/31018998
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2018-105893
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