Progression of Mineral Ion Abnormalities in Patients With Jansen Metaphyseal Chondrodysplasia
نویسندگان
چکیده
منابع مشابه
Congenital Adrenal Hyperplasia and Schmid Metaphyseal Chondrodysplasia in a Child
Congenital adrenal hyperplasia (CAH) is a group of hereditary diseases, which are autosomal recessive. CAH occurs due to defect in one of the cortisol coding genes and often clinically presents itself with signs of androgen overproduction. In this article, we report a case of CAH and Schmid metaphyseal dysplasia. Our literature review indicated that this report is the first attempt on CYP11B1 a...
متن کاملmodern surgical techniques in treatment of patients with cleft lip & cleft palate
چکیده ندارد.
15 صفحه اولCongenital Adrenal Hyperplasia and Schmid Metaphyseal Chondrodysplasia in a Child.
Congenital adrenal hyperplasia (CAH) is a group of hereditary diseases, which are autosomal recessive. CAH occurs due to defect in one of the cortisol coding genes and often clinically presents itself with signs of androgen overproduction. In this article, we report a case of CAH and Schmid metaphyseal dysplasia. Our literature review indicated that this report is the first attempt on CYP11B1 a...
متن کاملMutations within the gene encoding the alpha 1 (X) chain of type X collagen (COL10A1) cause metaphyseal chondrodysplasia type Schmid but not several other forms of metaphyseal chondrodysplasia.
Type X collagen is a homotrimer of alpha 1 (X) chains encoded by the COL10A1 gene. It is synthesised specifically and transiently by hypertrophic chondrocytes at sites of endochondral ossification. Point mutations and deletions in the region of the COL10A1 gene encoding the alpha 1 (X) carboxyl-terminal (NC1) domain have previously been identified in subjects with metaphyseal chondrodysplasia t...
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ژورنال
عنوان ژورنال: The Journal of Clinical Endocrinology & Metabolism
سال: 2018
ISSN: 0021-972X,1945-7197
DOI: 10.1210/jc.2018-00332