| 概要 |
Neurodevelopmental disorder with variable familial hypercholanemia (NEDFHCA) is a novel syndrome caused by mutations in WDR83OS. Clinical features include neurodevelopmental disorder, facial dysmorphism, intractable itching, and elevated bile acids. WDR83OS encodes the protein Asterix, which heterodimerizes with CCDC47 to form the PAT (protein associated with ER translocon) complex.
|
|---|
| 著者 |
Barish S, Lin SJ, Maroofian R, Gezdirici A, Alhebby H, Trimouille A, Biderman Waberski M, Mitani T, Huber I, Tveten K, Holla OL, Busk OL, Houlden H, Ghayoor Karimiani E, Beiraghi Toosi M, Shervin Badv R, Najarzadeh Torbati P, Eghbal F, Akhondian J, Al Safar A, Alswaid A, Zifarelli G, Bauer P, Marafi D, Fatih JM, Huang K, Petree C, Calame DG, von der Lippe C, Alkuraya FS, Wali S, Lupski JR, Varshney GK, Posey JE, Pehlivan D |
|---|
