Goldberg-Shprintzen megacolon syndrome with associated sensory motor axonal neuropathy-Reference-Cited by-同舟云学术

Goldberg-Shprintzen megacolon syndrome with associated sensory motor axonal neuropathy

Author:

Dafsari Hormos Salimi¹,Byrne Susan¹,Lin Jean-Pierre¹,Pitt Matthew²,Jongbloed Jan DH³,Flinter Frances⁴,Jungbluth Heinz¹⁵⁶

Affiliation:

1. Department of Paediatric Neurology; Evelina's Children Hospital; Guy's & St. Thomas' Hospital NHS Foundation Trust; London UK

2. Department of Neurophysiology; Great Ormond Street Hospital for Children; London UK

3. Department of Genetics; University of Groningen; University Medical Center Groningen; The Netherlands

4. Department of Clinical Genetics; Guy's Hospital; London UK

5. Randall Division for Cell and Molecular Biophysics; Muscle Signalling Section; King's College London UK

6. Department of Basic and Clinical Neuroscience; IoPPN; King's College; London UK

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

Reference13 articles.

3. A consanguineous family with Hirschsprung disease, microcephaly, and mental retardation (Goldberg-Shprintzen syndrome);Brooks;J Med Genet,1999

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