CTC1 mutations in a Brazilian family with progeroid features and recurrent bone fractures
نویسندگان
چکیده
منابع مشابه
features of short story in translated and non-translated literature: a polysystemic perspective
ترجمه متون ادبی در دنیای امروز از اهمیت ویژه ای برخوردار است. فرهنگ های مختلف با استفاده از متون ادبی ملل و فرهنگ های دیگر سعی در غنی کردن فرهنگ و ادبیات کشور خود دارند. کشور ما نیز از این قاعده مستثنی نیست. در ایران، ترجمه متون ادبی اروپائی که با دوران مشروطه ایرانی آغاز می شود موجب تغییرات اساسی در فرهنگ، شیوه زندگی و تفکر ایرانیان شده است. در این دوران نه تنها در امورات سیاسی و فکری کشور تغی...
15 صفحه اولEGFR mutations cause a lethal syndrome of epithelial dysfunction with progeroid features
The epidermal growth factor receptor (EGFR) is part of a large family of receptors required for communicating extracellular signals through internal tyrosine kinases. Epidermal growth factor (EGF) signaling is required for tissue development, whereas constitutive activation of this signaling pathway is associated with oncogenic transformation. We identified homozygous c.1283G>A (p.Gly428Asp) mu...
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BackgroundCongenital generalized lipodystrophy (CGL) is a rare disease. It is associated with near total fat loss, severe insulin resistance and hypoleptinemia leading to metabolic derangements.Case PresentationWe report a 25- year- old female with 1-Acylglycerol-3-phosphate-O-acyltransferase 2 (APGAT2) mutation, and both sclerotic and lytic bone lesions together for the first time. Bone cyst i...
متن کاملthe past hospitalization and its association with suicide attempts and ideation in patients with mdd and comparison with bmd (depressed type) group
چکیده ندارد.
Whole exome sequencing revealed biallelic IFT122 mutations in a family with CED1 and recurrent pregnancy loss.
To the Editor : Cranioectodermal dysplasia-1 (CED1), also known as Sensenbrenner syndrome (MIM 218330), is characterized by skeletal, craniofacial, and ectodermal abnormalities (1). Here, we report a family with CED1 and recurrent abortions. I-2 , 39-year-old woman, was referred to our hospital for consultation regarding recurrent abortions. Although she had one healthy boy (II-2), she suffered...
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ژورنال
عنوان ژورنال: Molecular Genetics & Genomic Medicine
سال: 2018
ISSN: 2324-9269
DOI: 10.1002/mgg3.495