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 کاملCongenital 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...
متن کاملcongenital 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 کاملIdentification of key genes associated with Schmid-type metaphyseal chondrodysplasia based on microarray data
This study aimed to gain a better understanding of the molecular circuitry of Schmid-type metaphyseal chondrodysplasia (SMCD), and to identify more potential genes associated with the pathogenesis of SMCD. Microarray data from GSE72261 were downloaded from the NCBI GEO database, including collagen X p.Asn617Lys knock-in mutation (ColXN617K), ablated XBP1 activity (Xbp1CartΔEx2), compound mutant...
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ژورنال
عنوان ژورنال: Orthopedics & Traumatology
سال: 1980
ISSN: 1349-4333,0037-1033
DOI: 10.5035/nishiseisai.28.634