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Article

ASN540SER mutation is associated with a mild form of hypochondroplasia: a 7 years follow-up in an Italian boy.

Georgian medical news - 1 Sept 2012

De Sanctis V, Baldi M, Marsciani A, Ravaioli E, Timoncini G, Reggiani L, Sensi A, Zucchini A

Abstract excerpt

Skeletal dysplasias (SKD) are genetic disorders that result in the abnormal development of part or all of the skeleton and are commonly associated with short stature. The most common SKDs that typically result in short stature include achondroplasia/hypochondroplasia (HCH) both caused by differen...

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Source

Identifiers

PMID: 23045425

Genes

SDS
FGFR3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23045425-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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ASN540SER mutation is associated with a mild form of hypochondroplasia: a 7 years follow-up in an Italian boy.PMID 23045425Read ↗

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Hypochondroplasia in a child with 1620C>G (Asn540Lys) mutation in FGFR3.Semantic proximity Read ↗

High specificity of head circumference to recognize N540K mutation in hypochondroplasia.Semantic proximity Read ↗

Genotype and phenotype in hypochondroplasia.Semantic proximity Read ↗

A novel missense mutation Ile538Val in the fibroblast growth factor receptor 3 in hypochondroplasia. Mutations in brief no. 122. Online.Semantic proximity Read ↗

Homozygous N540K hypochondroplasia--first report: radiological and clinical features.Semantic proximity Read ↗

Clinical and genetic heterogeneity of hypochondroplasia.Semantic proximity Read ↗

Asn540Lys mutation in fibroblast growth factor receptor 3 and phenotype in hypochondroplasia.Semantic proximity Read ↗

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New proposed clinico-radiologic and molecular criteria in hypochondroplasia: FGFR 3 gene mutations are not the only cause of hypochondroplasia.Semantic proximity Read ↗

Diagnosis of hypochondroplasia: the role of radiological interpretation. Italian Study Group for Hypochondroplasia.Semantic proximity Read ↗

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