Acromelic frontonasal dysostosis andZSWIM6mutation: phenotypic spectrum and mosaicism-Reference-Cited by-同舟云学术

Acromelic frontonasal dysostosis andZSWIM6mutation: phenotypic spectrum and mosaicism

Published:2016-02-03 Issue:3 Volume:90 Page:270-275
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Twigg S.R.F.¹,Ousager L.B.²,Miller K.A.¹,Zhou Y.¹,Elalaoui S.C.³⁴,Sefiani A.³⁴,Bak G.S⁵,Hove H.⁶,Hansen L.K.⁷,Fagerberg C.R.²,Tajir M.³⁴,Wilkie A.O.M.¹

Affiliation:

1. Clinical Genetics Group; Weatherall Institute of Molecular Medicine, University of Oxford; Oxford UK

2. Department of Clinical Genetics; Odense University Hospital; Odense Denmark

3. Human Genomics Center; Faculty of Medicine and Pharmacy of Rabat; Rabat Morocco

4. Department of Medical Genetics; National Institute of Health; Rabat Morocco

5. Department of Obstetrics and Gynecology; Odense University Hospital; Odense Denmark

6. Department of Clinical Genetics; Copenhagen University Hospital Rigshospitalet; Copenhagen Denmark

7. Department of Paediatrics; Hans Christian Andersen Children's Hospital, Odense University Hospital; Odense Denmark

Funder

Wellcome Trust

Newlife Foundation for Disabled Children

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference14 articles.

1. Frontonasal dysplasia;Sedano;J Pediatr,1970

2. Acromelic frontonasal "dysplasia": further delineation of a subtype with brain malformation and polydactyly (Toriello syndrome);Verloes;Am J Med Genet,1992

3. Fronto-nasal dysostosis, callosal agenesis, crossed-fused ectopia, tibial hemimelia, and preaxial polydactyly of feet: severe expression of the acrocallosal syndrome?;Sueldo;Am J Med Genet,1993

4. Acromelic frontonasal dysostosis;Slaney;Am J Med Genet,1999

5. Familial acromelic frontonasal dysostosis: autosomal dominant inheritance with reduced penetrance;Hing;Am J Med Genet,2004

Cited by 18 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Prenatal diagnosis of a severe form of frontonasal dysplasia with severe limb anomalies, hydrocephaly, a hypoplastic corpus callosum, and a ventricular septal defect using 3D ultrasound: a case report and literature review;BMC Pregnancy and Childbirth;2024-06-10

2. Application of whole exome sequencing in the diagnosis of muscular disorders: a study of Taiwanese pediatric patients;Frontiers in Genetics;2024-05-15

3. ZSWIM4 regulates embryonic patterning and BMP signaling by promoting nuclear Smad1 degradation;EMBO Reports;2024-01-02

4. A Case of NEDMAGA: Neurodevelopmental Disorder with Movement Abnormalities, Abnormal Gait, and Autistic Features;Movement Disorders Clinical Practice;2023-12-18

5. miRNA biogenesis and inherited disorders: clinico-molecular insights;Trends in Genetics;2023-05