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Borgaonkar DS. Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 1975-.
Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet].
Show details- Aubourg P, Krahn M, Bernard R, Nguyen K, Forzano O, Boccaccio I, Delague V, De Sandre-Giovannoli A, Pouget J, Depetris D, Mattei M-G, Philip N, Levy N.: Assignment of a new congenital fibrosis of extraocular muscles type 3 (CFEOM3) locus, FEOM4, based on a balanced translocation t(2;13)(q37.3;q12.11) and identification of candidate genes. J. Med. Genet. 42:253-259, 2005. [PMC free article: PMC1736008] [PubMed: 15744040]Individuals I-1, II-1, and III-2:46,X(XorY),t(2;13)(q37.3;q12.11).,III-1:45,XX,-13,-2,+der(2)t(2;13)(q36;q11)mat.The girl presenting with syndromic CFEOM with MR and facial dysmorphism ''reminiscent of Albright hereditary osteodystrophy (AHO)-like syndrome (OMIM 600430).FISH analysis determined that BAC RP11-205L13 encompassed the breakpoint at 2q37.3; and BAC RP11-273F15 encompasses the breakpoint at 13q12. The exact sequence is identified as AY586556 in Genbank.Aberration: Reciprocal translocationMIM#: 135700,602078,600638Index Terms: Congenital fibrosis of extraocular muscles type 3 (CFEOM3),FEOM4
- 13q1211 - Chromosomal Variation in Man13q1211 - Chromosomal Variation in Man
- SAMN02484482 (1)SRA
- Homo sapiens mitochondrial ribosomal protein L21 (MRPL21), transcript variant 1,...Homo sapiens mitochondrial ribosomal protein L21 (MRPL21), transcript variant 1, mRNAgi|1675026786|ref|NM_181515.2|Nucleotide
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