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Article

Chromosomal translocation resolves a diagnostic odyssey for familial Ruvalcaba syndrome.

American journal of medical genetics. Part A - 1 Jan 2025

Boyd Brenna M, Fang He, Allingham-Hawkins Diane, Fischer Gregory J, Peng Siwu, Puryear Lauren, Liu Yajuan J, Hisama Fuki M

Abstract excerpt

In 1971, Ruvalcaba and colleagues reported a new syndrome in two brothers with severe intellectual disability, dysmorphic features, osseous dysplasia, and overlapping features in two intellectually disabled female maternal first cousins. No genetic cause was identified. We report on updated genomic studies and clinical follow-up in this family, including one of the original probands and their niece, whose own...

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Share to Abnormalities, Multiple
Share to Chromosomes, Human, Pair 2

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to DNA Copy Number Variations

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Source

Identifiers

PMID: 39189835
DOI: 10.1002/ajmg.a.63847

Genes

D2HGDH
FLT4
HDAC4
HNRNPH1
KIF1A
NSD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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