Refining the clinical phenotype of Okur–Chung neurodevelopmental syndrome
نویسندگان
چکیده
منابع مشابه
Myotilinopathy: refining the clinical and myopathological phenotype.
Mutations in myotilin gene (MYOT) have been associated with variable syndromes including limb girdle muscular dystrophy type 1A (LGMD1A) and a subgroup of myofibrillar myopathy (MFM/MYOT). We studied six Spanish patients from three unrelated kindreds and seven patients without family history. Three previously reported and two novel disease-associated MYOT mutations were identified in this group...
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R ett syndrome (RTT; MIM No 312750) is a neurodevelopmental disorder mainly affecting girls, with an incidence of 1:10 000 female births. The clinical features of the syndrome were first described in a series of publications during the decade after it was first reported in English language journals. At that time, in the absence of a biological marker, criteria to assist with the diagnosis were ...
متن کاملLETTER TO JMG Refining the phenotype of common mutations in Rett syndrome
R ett syndrome (RTT; MIM No 312750) is a neurodevelopmental disorder mainly affecting girls, with an incidence of 1:10 000 female births. The clinical features of the syndrome were first described in a series of publications during the decade after it was first reported in English language journals. At that time, in the absence of a biological marker, criteria to assist with the diagnosis were ...
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BACKGROUND Alström syndrome (AS), featuring retinal dystrophy, neuronal deafness, cardiomyopathy, metabolic syndrome, and diffuse fibrosis, is caused by biallelic mutations in the centrosomal protein ALMS1. Genotype-phenotype correlation has been suggested without assessment of ALMS1 expression. METHODS ALMS1 expression (real-time PCR and immunocytochemistry) and cilia formation (immunocytoch...
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Because of advances in our understanding of the hypereosinophilic syndrome (HES) and the availability of novel therapeutic agents, the original criteria defining these disorders are becoming increasingly problematic. Here, we discuss shortcomings with the current definition of HES and recent developments in the classification of these disorders. Despite significant progress in our understanding...
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ژورنال
عنوان ژورنال: Human Genome Variation
سال: 2018
ISSN: 2054-345X
DOI: 10.1038/hgv.2018.11