Osteopathia striata congenita with cranial sclerosis and intellectual disability due to contiguous gene deletions involving the WTX locus-Reference-Cited by-同舟云学术

Osteopathia striata congenita with cranial sclerosis and intellectual disability due to contiguous gene deletions involving the WTX locus

Author:

Holman SK¹,Morgan T¹,Baujat G²,Cormier-Daire V²,Cho T-J³,Lees M⁴,Samanich J⁵,Tapon D⁶,Hove HD⁷,Hing A⁸,Hennekam R⁹,Robertson SP¹

Affiliation:

1. Department of Paediatrics; Dunedin School of Medicine, Otago University; Dunedin New Zealand

2. Département de Génétique; Hôpital Necker-Enfants Malades; Paris France

3. Division of Pediatric Orthopaedics; Seoul National University Children's Hospital; Seoul Korea

4. Department of Clinical Genetics; Great Ormond Street Hospital; London UK

5. Department of Pediatrics, Division of Genetics; Montefiore Medical Center; Bronx NY USA

6. Centre for Fetal Care; Queen Charlotte's and Chelsea Hospital; London UK

7. Department of Clinical Genetics; Copenhagen University Hospital; Rigshospitalet 2100 Copenhagen Denmark

8. Department of Pediatrics; University of Washington School of Medicine; Seattle Washington, DC 98195 USA

9. Department of Pediatrics; Academic Medical Center, University of Amsterdam; Amsterdam The Netherlands

Funder

Curekids New Zealand

Lotteries Health NZ

Marsden Fund

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

Reference24 articles.

2. How to counsel in osteopathia striata with cranial sclerosis;Keymolen;Genet Couns,1997

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3. X‐Linked intellectual disability update 2022;American Journal of Medical Genetics Part A;2022-10-27