منابع مشابه
Kabuki Syndrome
Disease characteristics. Kabuki syndrome (KS) is characterized by typical facial features (elongated palpebral fissures with eversion of the lateral third of the lower eyelid; arched and broad eyebrows; short columella with depressed nasal tip; large, prominent, or cupped ears), minor skeletal anomalies, persistence of fetal fingertip pads, mild to moderate intellectual disability, and postnata...
متن کاملThe INDEPTH Data Repository
The International Network for the Demographic Evaluation of Populations and Their Health (INDEPTH) is a global network of research centers that conduct longitudinal health and demographic evaluation of populations in lowand middle-income countries (LMICs) currently in 52 health and demographic surveillance system (HDSS) field sites situated in sub-Saharan Africa (14 countries), Asia (India, Ban...
متن کاملUnmasking Kabuki syndrome.
The identification of de novo dominant mutations in KMT2D (MLL2) as the main cause of Kabuki syndrome (KS) has shed new light on the pathogenesis of this well-delineated condition consisting of a peculiar facial appearance, short stature, organ malformations and a varying degree of intellectual disability. Mutation screening studies have confirmed KMT2D as the major causative gene for KS and ha...
متن کاملForeword: INDEPTH WHO-SAGE study
M y foreword to the first INDEPTH supplement published in GHA, which comprised a series of papers by the INDEPTH NCD Surveillance in Asia Working Group, stated that the work demonstrated ‘the increasing ability of the INDEPTH Network to harness the collective potential in Health and Demographic Surveillance Systems in lowand middle-income countries to provide a better, empirical understanding o...
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ژورنال
عنوان ژورنال: Arts Faculty Journal
سال: 2012
ISSN: 2408-8285,1994-8891
DOI: 10.3329/afj.v4i0.12935