Cutaneous, Cranial, And Skeletal Defects In Children And Adults With Focal Dermal Hypoplasia

    October 2023 in “ Children ”
    Ali Al Kaissi, Sergey Ryabykh, Vladimir Kenis … Franz Grill
    Studysummary This study diagnosed a group of six girls with various ectodermal abnormalities, identifying cranio-skeletal malformations consistent with focal dermal hypoplasia (Goltz syndrome), and found heterozygous mutations in the PORCN gene in two children.
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    Research cited in this study 1

    1. Characterization of X-Linked Hypohidrotic Ectodermal Dysplasia Hair and Sweat Gland Phenotypes Using Phototrichogram Analysis and Live Confocal Imaging American Journal of Medical Genetics - Part A · 2013

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