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Article

Acromicric dysplasia due to a novel missense mutation in the fibrillin 1 gene in a three-generation family.

Journal of pediatric endocrinology & metabolism : JPEM - 25 Nov 2022

Quitter Friederike, Flury Monika, Waldmueller Stephan, Schubert Tina, Koehler Katrin, Huebner Angela

Abstract excerpt

OBJECTIVES: Short stature is one of the most common reasons for consulting a paediatric endocrinologist. Targeted diagnosis of familial short stature can be challenging due to a broad spectrum of differential diagnoses. CASE PRESENTATION: Here we report a novel mutation in the fibrillin 1 gene (FBN1) in six family members causing a mild phenotype of acromicric dysplasia. Additionally, we present the effects of...

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Source

Identifiers

PMID: 35942587
DOI: 10.1515/jpem-2022-0287

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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