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Article

HHID syndrome with plantar fat pads caused by a de novo ARID1B mutation.

Clinical dysmorphology - 1 Jul 2018

Wafik Mohamed, Kini Usha

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 29864107
DOI: 10.1097/MCD.0000000000000226

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HHID syndrome with plantar fat pads caused by a de novo ARID1B mutation.PMID 29864107Read ↗

The HHID syndrome of hypertrichosis, hyperkeratosis, abnormal corpus callosum, intellectual disability, and minor anomalies is caused by mutations in ARID1B.Semantic proximity Read ↗

ARID3a from the ARID family: structure, role in autoimmune diseases and drug discoverySemantic proximity Read ↗

A Case Series of Familial ARID1B Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria.Semantic proximity Read ↗

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Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin-Siris syndrome-like phenotype.Semantic proximity Read ↗

MFN2-associated lipomatosis: Clinical spectrum and impact on adipose tissueSemantic proximity Read ↗

Coffin–Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B geneSemantic proximity Read ↗

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Two novel homozygous variants of ATP6V0A2 and ALDH18A1 lead to autosomal recessive cutis laxa type 2 and 3 in two Pakistani families.Semantic proximity Read ↗

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A novel familial autosomal dominant mutation in ARID1B causing neurodevelopmental delays, short stature, and dysmorphic features.Semantic proximity Read ↗

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