ALG12‐CDG: An unusual patient without intellectual disability and facial dysmorphism, and with a novel variant
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چکیده
منابع مشابه
Syndromic Intellectual Disability Caused by a Novel Truncating Variant in AHDC1: A Case Report
Mutations in the AHDC1 gene are associated with the Xia-Gibbs syndrome (XGS), a sporadic genetic disorder characterised by developmental delay, intellectual disability, hypotonia, obstructive sleep apnoea, dysmorphic facial features, and cerebral malformations with plagiocephaly. Here we report the case of a 13-year-old Colombian female patient with a history of developmental delay, speech dela...
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76 From a GeneMatcher-enabled international collaboration, we identified ten individuals with 77 intellectual disability, speech delay, ataxia and facial dysmorphism and a mutation in EBF3, 78 encoding a transcription factor required for neuronal differentiation. Structural assessments, 79 transactivation assays, in situ fractionation, RNA-seq and ChIP-seq experiments collectively 80 show that ...
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Williams syndrome (OMIM #194050) is a rare, well-recognized, multisystemic genetic condition affecting approximately 1/7,500 individuals. There are no marked regional differences in the incidence of Williams syndrome. The syndrome is caused by a hemizygous deletion of approximately 28 genes, including ELN on chromosome 7q11.2. Prenatal-onset growth retardation, distinct facial appearance, cardi...
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AbstractHydatid disease is a widespread parasitic infection caused by tapewormEchinococcus and it affects mainly the liver, but other organs such as pelvic organscould be involved very rare. Here we report a case of hydatid cyst with involvementof oviduct in a woman with endometrial cancer. It was misdiagnosed as a multicysticright ovarian mass before surgery and by microscopic study it was sho...
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ژورنال
عنوان ژورنال: Molecular Genetics & Genomic Medicine
سال: 2020
ISSN: 2324-9269,2324-9269
DOI: 10.1002/mgg3.1304