Genotype-phenotype correlation of contiguous gene deletions ofSLC6A8, BCAP31andABCD1-Reference-Cited by-同舟云学术

Genotype-phenotype correlation of contiguous gene deletions ofSLC6A8, BCAP31andABCD1

Published:2014-03-06 Issue:2 Volume:87 Page:141-147
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

van de Kamp J.M.¹,Errami A.²,Howidi M.³,Anselm I.⁴,Winter S.⁵,Phalin-Roque J.⁵,Osaka H.⁶,van Dooren S.J.M.⁷,Mancini G.M.⁸,Steinberg S.J.⁹,Salomons G.S.⁷

Affiliation:

1. Department of Clinical Genetics; VU University Medical Center; Amsterdam The Netherlands

2. MRC Holland; Amsterdam The Netherlands

3. Department of Pediatrics; Mafraq Hospital; Abu Dhabi UAE

4. Department of Neurology, Boston Children's Hospital; Harvard Medical School; Boston MA USA

5. Children's Hospital Central California; Madera CA USA

6. Clinical Research Institute; Kanagawa Children's Medical Center; Yokohama Japan

7. Department of Clinical Chemistry, Metabolic Unit; VU University Medical Center; Amsterdam The Netherlands

8. Department of Clinical Genetics; Erasmus Medical Center; Rotterdam The Netherlands

9. Department of Neurogenetics, Kennedy Krieger Institute & Institute of Genetic Medicine; Johns Hopkins University School of Medicine; Baltimore MA USA

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference18 articles.

1. Phenotype and genotype in 101 males with X-linked creatine transporter deficiency;Kamp;J Med Genet,2013 Jul

2. Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders;Corzo;Am J Hum Genet,2002

3. Contiguous ABCD1 DXS1357E deletion syndrome: report of an autopsy case;Iwasa;Neuropathology,2013

4. X-linked creatine transporter defect: a report on two unrelated boys with a severe clinical phenotype;Anselm;J Inherit Metab Dis,2006 Feb

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