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

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

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

Affiliation

Quitter F; Children's Hospital, Universitätsklinikum Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.
Flury M; Children's Hospital, Universitätsklinikum Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.
Waldmueller S; University Hospital Tübingen, Institut für Medizinische Genetik und Angewandte Genomik Tübingen, Germany.
Schubert T; Children's Hospital, Universitätsklinikum Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.
Koehler K; Children's Hospital, Universitätsklinikum Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.
Huebner A; Children's Hospital, Universitätsklinikum Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.

J Pediatr Endocrinol Metab ; 35(11): 1443-1447, 2022 Nov 25.

Article in En | MEDLINE | ID: mdl-35942587

Subject(s)
Key words

FBN1; acromicric dysplasia; short stature

Fulltext

Add to My VHL

XML

PubMed Links

Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Bone Diseases, Developmental / Limb Deformities, Congenital / Dwarfism Type of study: Risk_factors_studies Limits: Humans Language: En Journal: J Pediatr Endocrinol Metab Journal subject: ENDOCRINOLOGIA / PEDIATRIA Year: 2022 Document type: Article Affiliation country: Alemania Country of publication: Alemania

Fulltext

Add to My VHL

XML

PubMed Links

Search on Google