focal dermal hypoplasia

focal dermal hypoplasia
an X-linked dominant disorder caused by mutation in the PORCN gene (locus: Xp11.23), which encodes an endoplasmic reticulum transmembrane protein involved in processing of Wnt proteins. It is found almost exclusively in females, being lethal to males in utero, and is characterized by anomalies of the skin, digits, and eyes, and sometimes mental retardation. Called also Goltz syndrome.

Medical dictionary. 2011.

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