Broader geographical spectrum of Cohen syndrome due to COH1 mutations
نویسندگان
چکیده
منابع مشابه
Broader geographical spectrum of Cohen syndrome due to COH1 mutations.
C ohen syndrome (COH1: MIM 216550) is an autosomal recessive disorder, first described in 1973. Cardinal clinical features of Cohen syndrome include microcephaly, non-progressive mental retardation, characteristic facial features, neutropenia, and ophthalmologic findings. It is overrepresented in Finland, though cases have been reported worldwide. The genetic locus for Cohen syndrome was mapped...
متن کاملOmenn syndrome due to ARTEMIS mutations.
Omenn syndrome (OS) is characterized by severe combined immunodeficiency (SCID) associated with erythrodermia, hepatosplenomegaly, lymphadenopathy, and alopecia. In patients with OS, B cells are mostly absent, T-cell counts are normal to elevated, and T cells are frequently activated and express a restricted T-cell receptor (TCR) repertoire. Thus far, inherited hypomorphic mutations of the reco...
متن کاملCompartment Syndrome of the Calf Due to Nicolau Syndrome
We report a case of Nicolau syndrome in a 15 months old girl following of an intramuscular injection of penicillin 6.3.3 in her left buttock. This case is unique because she developed compartment syndrome in her left calf far from her injection site. Her toe’s tips gangrened in the course of her ailment. We hypothesized that the compartment syndrome might be produced by a probable intra-arteri...
متن کاملThe Phenotypic Spectrum of DYT24 Due to ANO3 Mutations
Genes causing primary dystonia are rare. Recently, pathogenic mutations in the anoctamin 3 gene (ANO3) have been identified to cause autosomal dominant craniocervical dystonia and have been assigned to the dystonia locus dystonia-24 (DYT24). Here, we expand on the phenotypic spectrum of DYT24 and provide demonstrative videos. Moreover, tremor recordings were performed, and back-averaged electro...
متن کاملSpectrum of mutations in Gitelman syndrome.
Gitelman's syndrome (GS) is a rare, autosomal recessive, salt-losing tubulopathy caused by mutations in the SLC12A3 gene, which encodes the thiazide-sensitive NaCl cotransporter (NCC). Because 18 to 40% of suspected GS patients carry only one SLC12A3 mutant allele, large genomic rearrangements may account for unidentified mutations. Here, we directly sequenced genomic DNA from a large cohort of...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 2004
ISSN: 1468-6244
DOI: 10.1136/jmg.2003.014779