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Dwarfism

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[Microcephalic osteodysplastic primary dwarfism type II with hypergonadotropic hypogonadism in a 16-year-old patient].
Dwarfism
Novel Biallelic Variants in IQSEC1 in a Patient With Intellectual Developmental Disorder With Short Stature and Behavioral Abnormalities (IDDSSBA) and Corpus Callosum Dysgenesis.
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ACAN-related disorder, antenatal presentation and phenotypic variability: a case series.
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Extra-Neurological Characterization of Seckel Syndrome-Model Mice Harboring CEP152 Variants.
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New insights into Oliver-McFarlane syndrome: adrenocortical hypofunction and variable expressivity in a Chinese sibling pair.
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Identification and functional characterization of a novel pathogenic DVL1 gene variant in Robinow syndrome.
Dwarfism
The abnormal C-terminus caused by DVL1 variants impacts Robinow syndrome phenotypes.
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Saturation editing of RNU4-2 reveals distinct dominant and recessive disorders.
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