Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome

Cohen syndrome (CS) is an autosomal recessive disorder with variability in the clinical manifestations, characterised by mental retardation, postnatal microcephaly, facial dysmorphism, pigmentary retinopathy, myopia, and intermittent neutropenia. Mutations in the gene COH1 have been found in an ethn...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Seifert, W, Holder‐Espinasse, M, Spranger, S, Hoeltzenbein, M, Rossier, E, Dollfus, H, Lacombe, D, Verloes, A, Chrzanowska, K H, Maegawa, G H B, Chitayat, D, Kotzot, D, Huhle, D, Meinecke, P, Albrecht, B, Mathijssen, I, Leheup, B, Raile, K, Hennies, H C, Horn, D
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: BMJ Group 2006
Gaiak:
Electronic Letter
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC2564527/
https://ncbi.nlm.nih.gov/pubmed/16648375
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2005.039867
Etiketak: Etiketa erantsi
Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!

Antzeko izenburuak