Pathogenic mutations in two Chinese patients exhibiting severe early-onset obesity
Sign Up to like & getrecommendations! Published in 2019 at "Science China Life Sciences"
DOI: 10.1007/s11427-018-9443-0
Abstract: McKusick-Zhang Center for Genetic Medicine, Institute of Basic Medical Sciences Chinese Academy of Medical Sciences, School of Basic Medicine Peking Union Medical College, Beijing 100005, China; Capital Institute of Pediatrics, Beijing 100020, China; Department of… read more here.
Keywords: medicine; pathogenic mutations; mutations two; two chinese ... See more keywords
Mutations in two large pedigrees highlight the role of ZNF711 in X-linked intellectual disability.
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DOI: 10.1016/j.gene.2016.12.013
Abstract: Intellectual disability (ID) affects approximately 1-2% of the general population and is characterized by impaired cognitive abilities. ID is both clinically as well as genetically heterogeneous, up to 2000 genes are estimated to be involved… read more here.
Keywords: intellectual disability; large pedigrees; znf711; mutations two ... See more keywords
Identification of IL2RG and CYBB mutations in two Chinese primary immunodeficiency patients by whole-exome sequencing
Sign Up to like & getrecommendations! Published in 2018 at "Immunological Investigations"
DOI: 10.1080/08820139.2017.1371186
Abstract: ABSTRACT Background Primary immunodeficiency diseases are a group of genetic disorders that lead to increased propensity to a variety of infections, sometimes with fatal outcomes. Method In this study, whole-exome sequencing (WES) was used to… read more here.
Keywords: exome sequencing; immunodeficiency; mutations two; primary immunodeficiency ... See more keywords
Novel PNPLA1 mutations in two Italian siblings with autosomal recessive congenital ichthyosis
Sign Up to like & getrecommendations! Published in 2018 at "Journal of the European Academy of Dermatology and Venereology"
DOI: 10.1111/jdv.14618
Abstract: Autosomal recessive congenital ichthyoses (ARCI) are a clinically and genetically heterogeneous group of non-syndromic ichthyoses due to mutations in at least 9 genes, including PNPLA1 (1). PNPLA1 (Patatin-Like Phospholipase Domain-Containing Protein 1) is strongly expressed… read more here.
Keywords: novel pnpla1; mutations two; pnpla1 mutations; recessive congenital ... See more keywords
ERCC2 mutations in two siblings with a severe trichothiodystrophy phenotype
Sign Up to like & getrecommendations! Published in 2019 at "Journal of the European Academy of Dermatology and Venereology"
DOI: 10.1111/jdv.16134
Abstract: Trichothiodystrophy (TTD) describes a group of rare genetic disorders of DNA repair, characterized by sulphur‐deficient hair, skin anomalies and systemic complications like preterm delivery, neurological impairment, haematological and ophthalmological abnormalities and life‐threatening infections. read more here.
Keywords: siblings severe; mutations two; trichothiodystrophy; two siblings ... See more keywords
Identification of CRB1 mutations in two Chinese consanguineous families exhibiting autosomal recessive retinitis pigmentosa.
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DOI: 10.3892/mmr.2019.10495
Abstract: Retinitis pigmentosa (RP) is a leading cause of inherited blindness characterized by progressive loss of retinal photoreceptor cells. The present study aimed to identify the causative gene mutations in two Chinese families with autosomal recessive… read more here.
Keywords: retinitis pigmentosa; two chinese; mutations two; crb1 ... See more keywords