Clinical utility gene card for: Meckel syndrome – update 2016
نویسندگان
چکیده
منابع مشابه
Meckel–Gruber Syndrome: An Update on Diagnosis, Clinical Management, and Research Advances
Meckel-Gruber syndrome (MKS) is a lethal autosomal recessive congenital anomaly syndrome caused by mutations in genes encoding proteins that are structural or functional components of the primary cilium. Conditions that are caused by mutations in ciliary genes are collectively termed the ciliopathies, and MKS represents the most severe condition in this group of disorders. The primary cilium is...
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متن کاملGenetic heterogeneity of Meckel syndrome.
Meckel syndrome (MKS) is a lethal, autosomal recessive condition characterised by an occipital meningoencephalocele, enlarged kidneys with multicystic dysplasia, fibrotic changes of the liver in the portal area with ductal proliferation, and postaxial polydactyly. Recently, a MKS gene has been mapped to chromosome 17q21-q24 in Finnish families, with no evidence of locus heterogeneity in this po...
متن کاملMeckel Gruber syndrome (dysencephalia splanchnocystica).
Meckel-Gruber syndrome is a rare lethal autosomal recessive condition which was first described by Johann Friedrich Meckel in 1822 and GB Gruber in 1934. More than 200 cases have been reported worldwide with an incidence ranging from 1:13,250 to 1:140,000 live births. A 21-year-old female with G3 A2 L0, presented with twin pregnancy with history of previous two anencephalic pregnancies. The pre...
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This review of the literature on Alport syndrome (AS) places emphasis on genetic and clinical issues related to the sensorineural hearing loss in type III and type IV X-linked AS. The review covers prevalence, medical issues, genetic issues, audiologic findings, vestibular findings, the pathophysiology of hearing loss in type III AS, age- and phenotype-specific normative data and concludes with...
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ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2016
ISSN: 1018-4813,1476-5438
DOI: 10.1038/ejhg.2016.33