Growth in puberty in girls with hypochondroplasia, p.Asn540Lys-related mutations.

doi:10.1002/ajmg.a.63423

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Article

Growth in puberty in girls with hypochondroplasia, p.Asn540Lys-related mutations.

American journal of medical genetics. Part A - 1 Feb 2024

Del Pino Mariana, Fano Virginia

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 37789665
DOI: 10.1002/ajmg.a.63423

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Related research

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Research trail→

Click a neighbor to travelStep 1 · 9 closest

Growth in puberty in girls with hypochondroplasia, p.Asn540Lys-related mutations.PMID 37789665Read ↗

[Hypochondroplasia due to the N540K mutation].Semantic proximity Read ↗

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

A GPR54-Activating Mutation in a Patient with Central Precocious PubertySemantic proximity Read ↗

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

Genotype and phenotype in hypochondroplasia.Semantic proximity Read ↗

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

Delayed puberty and hypogonadism caused by mutations in the follicle-stimulating hormone beta-subunit gene.Semantic proximity Read ↗

Congenital microvillus atrophy in a girl with autosomal dominant hypochondroplasia.Semantic proximity Read ↗

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