Woodhouse–Sakati Syndrome: First report of a Portuguese case

Woodhouse–Sakati Syndrome is a very rare autosomal recessive disorder caused by pathogenic variants in the DCAF17 gene, which encodes DDB1‐ and CUL4‐associated factor 17. It is a multisystemic disorder characterized by hypogonadism, adolescent‐ to young adult‐onset diabetes mellitus, hypothyroidism,...

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Veröffentlicht in:American journal of medical genetics. Part A 2019-11, Vol.179 (11), p.2237-2240
Hauptverfasser: Louro, Pedro, Durães, João, Oliveira, Diana, Paiva, Sandra, Ramos, Lina, Macário, Maria Carmo
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Sprache:eng
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