Prenatal diagnosis of achondroplasia presenting with multiple-suture synostosis: a novel association-Reference-Cited by-同舟云学术

Prenatal diagnosis of achondroplasia presenting with multiple-suture synostosis: a novel association

Published:2006 Issue:3 Volume:26 Page:258-261
ISSN:0197-3851
Container-title:Prenatal Diagnosis
language:en
Short-container-title:Prenat. Diagn.

Author:

Karadimas Charalampos,Trouvas Dimitrios,Haritatos George,Makatsoris Constantinos,Dedoulis Evangelos,Velissariou Voula,Antoniadi Thalia,Hatzaki Angeliki,Petersen Michael B.

Publisher

Wiley

Subject

Genetics (clinical),Obstetrics and Gynecology

Reference20 articles.

1. Molecularly proven hypochondroplasia with cloverleaf skull deformity: a novel association

2. Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes

3. Occurrence of thanatophoric dysplasia type I (R248C) and hypochondroplasia (N540K) mutations in two patients with achondroplasia phenotype

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1. CLARITY : Co‐occurrences in achondroplasia—craniosynostosis, seizures, and decreased risk of diabetes mellitus;American Journal of Medical Genetics Part A;2021-01-26

2. Unique association of hypochondroplasia with craniosynostosis and cleft palate in a Mexican family;American Journal of Medical Genetics Part A;2017-11-17

3. Association of achondroplasia with sagittal synostosis and scaphocephaly in two patients, an underestimated condition?;American Journal of Medical Genetics Part A;2015-02-18

4. Achondroplasia and Multiple-Suture Craniosynostosis;Journal of Craniofacial Surgery;2015-01

5. FGFR3 mutation causes abnormal membranous ossification in achondroplasia;Human Molecular Genetics;2014-01-12