Novel myopathy in a newborn with Shwachman-Diamond syndrome and review of neonatal presentation-Reference-Cited by-同舟云学术

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Novel myopathy in a newborn with Shwachman-Diamond syndrome and review of neonatal presentation

Published:2016-02-11 Issue:5 Volume:170 Page:1155-1164
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Topa Alexandra¹,Tulinius Mar²,Oldfors Anders³,Hedberg-Oldfors Carola³

Affiliation:

1. Department of Clinical Pathology and Genetics; Sahlgrenska University Hospital; Gothenburg Sweden

2. Department of Pediatrics; University of Gothenburg; The Queen Silvia Children's Hospital; Gothenburg Sweden

3. Department of Pathology; University of Gothenburg; Gothenburg Sweden

Funder

Neuromuscular Disorders in West Sweden

Nilsson-Ehle Foundations

Swedish Research Council

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference21 articles.

1. Shwachman's syndrome. A review of 21 cases;Aggett;Arch Dis Child,1980

2. An inherited defect of neutrophil mobility in Shwachman syndrome;Aggett;J Pediatr,1979

3. The Shwachman-Diamond SBDS protein localizes to the nucleolus;Austin;Blood,2005

4. Congenital hypoplasia of the exocrine pancreas;Bodian;Acta Paediatr,1964

5. Mutations in SBDS are associated with Shwachman-Diamond syndrome;Boocock;Nat Genet,2003

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1. Genetic Manifestations and Phenotype Spectrum in Infants With Feeding Difficulty;Molecular Genetics & Genomic Medicine;2024-08

2. Lethal Complications and Complex Genotypes in Shwachman Diamond Syndrome: Report of a Family with Recurrent Neonatal Deaths and a Case-Based Brief Review of the Literature;Children;2024-06-07

3. Germline Predisposition in Hematologic Malignancies;Comprehensive Hematology and Stem Cell Research;2024

4. Genetic manifestations and phenotype spectrum of feeding difficulty of unknown etiology: a hospital-based cohort study;2022-10-06

5. Shwachman-Diamond Syndrome With Congenital Myogenic Ptosis: Case Report of a Rare Association?;Journal of Pediatric Hematology/Oncology;2022-04-26

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