| 概要 |
Trichohepatoneurodevelopmental syndrome (THNS) is a rare autosomal recessive disease characterized by woolly hair, liver dysfunction, dysmorphic features, hypotonia, and global developmental delay. It has been reported that bi-allelic loss-of-function mutations in CCDC47 cause this disease. CCDC47 encodes the calcium-binding ER transmembrane protein.
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| 著者 |
Morimoto M, Waller-Evans H, Ammous Z, Song X, Strauss KA, Pehlivan D, Gonzaga-Jauregui C, Puffenberger EG, Holst CR, Karaca E, Brigatti KW, Maguire E, Coban-Akdemir ZH, Amagata A, Lau CC, Chepa-Lotrea X, Macnamara E, Tos T, Isikay S, Nehrebecky M, Overton JD, Klein M, Markello TC, Posey JE, Adams DR, Lloyd-Evans E, Lupski JR, Gahl WA, Malicdan MCV |
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