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Article

Identification of signal peptide domain SOST mutations in autosomal dominant craniodiaphyseal dysplasia.

Human genetics - 1 May 2011

Kim Su Jin, Bieganski Tadeusz, Sohn Young Bae, Kozlowski Kazimierz, Semënov Mikhail, Okamoto Nobuhiko, Kim Chi Hwa, Ko Ah-Ra, Ahn Geung Hwan, Choi Yoon-La, Park Sung Won, Ki Chang-Seok, Kim Ok-Hwa, Nishimura Gen, Unger Sheila, Superti-Furga Andrea, Jin Dong-Kyu

Abstract excerpt

Sclerosteosis and Van Buchem disease are related recessive sclerosing bone dysplasias caused by alterations in the SOST gene. We tested the hypothesis that craniodiaphyseal dysplasia (CDD) (MIM 122860), an extremely rare sclerosing bone dysplasia resulting facial distortion referred to as "leontiasis ossea", could also be caused by SOST mutations. We discovered mutations c.61G>A (Val21Met) and c.61G>T (Val21Leu)...

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Share to Abnormalities, Multiple
Share to Adaptor Proteins, Signal Transducing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 21221996
DOI: 10.1007/s00439-011-0947-3

Genes

SOST

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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