De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism.
Sign Up to like & getrecommendations! Published in 2019 at "American journal of human genetics"
DOI: 10.1016/j.ajhg.2018.12.014
Abstract: SOX4, together with SOX11 and SOX12, forms group C of SRY-related (SOX) transcription factors. They play key roles, often in redundancy, in multiple developmental pathways, including neurogenesis and skeletogenesis. De novo SOX11 heterozygous mutations have… read more here.
Keywords: associated mild; sox4 variants; variants cause; sox4 ... See more keywords
A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations
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DOI: 10.1111/cge.13032
Abstract: Deletions encompassing TAK1‐binding protein 2 (TAB2) associated with isolated and syndromic congenital heart defects. Rare missense variants are found in patients with a similar phenotype as well as in a single individual with frontometaphyseal dysplasia.… read more here.
Keywords: heart; tab2 mutations; polyvalvular heart; dysmorphism ... See more keywords
A syndrome of severe intellectual disability, hypotonia, failure to thrive, dysmorphism, and thinning of corpus callosum maps to chromosome 7q21.13‐q21.3
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DOI: 10.1111/cge.14143
Abstract: Six individuals of consanguineous Bedouin kindred presented at infancy with an autosomal recessive syndrome of severe global developmental delay, positive pyramidal signs, unique dysmorphism, skeletal abnormalities, and severe failure to thrive with normal birth weights.… read more here.
Keywords: intellectual disability; corpus callosum; syndrome severe; thinning corpus ... See more keywords
Prevalence of Anterior Inferior Iliac Spine Dysmorphism and Development of a Novel Classification System: An Anatomic Study of 1,797 Cadaveric Specimens
Sign Up to like & getrecommendations! Published in 2020 at "Frontiers in Surgery"
DOI: 10.3389/fsurg.2020.587921
Abstract: Purpose: Subspine impingement occurs due to a morphologically abnormal anterior inferior iliac spine (AIIS), capable of causing impingement against the distal femoral neck. The purpose of this investigation was to determine the prevalence of AIIS… read more here.
Keywords: classification; cadaveric specimens; prevalence; aiis dysmorphism ... See more keywords