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Clinical observations, molecular genetic analysis, and treatment of sitosterolemia in infants and children

✍ Scribed by Dau-Ming Niu; Kah-Wai Chong; Ju-Hui Hsu; Tina Jui-Ting Wu; Hsiao-Chi Yu; Cheng-Hung Huang; Ming-Yu Lo; Ching Fai Kwok; Lisa E. Kratz; Low-Tone Ho


Publisher
Springer
Year
2010
Tongue
English
Weight
144 KB
Volume
33
Category
Article
ISSN
0141-8955

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## Abstract Congenital obstructive anomalies of the urinary tract usually occur sporadically. We describe inheritance in a three‐generation kindred of a spectrum of kidney anomalies consistent with an autosomal‐dominant mode of transmission, with incomplete penetrance, calyectasis (maternal grand‐m