Simpson‐Golabi‐Behmel syndrome: One family, same mutation, different outcome-Reference-Cited by-同舟云学术

Simpson‐Golabi‐Behmel syndrome: One family, same mutation, different outcome

Published:2021-05-18 Issue:8 Volume:185 Page:2502-2506
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Fernandes Carla¹^ORCID,Paúl Alexandra¹,Venâncio Maria Margarida²³^ORCID,Ramos Fabiana²^ORCID

Affiliation:

1. Department of Pediatric Oncology, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra Coimbra Portugal

2. Department of Genetics, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra Coimbra Portugal

3. Medical Genetics Institute – UC Genomics, Faculty of Medicine University of Coimbra Coimbra Portugal

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62263

Reference24 articles.

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3. Bellman M. Lingam S. Aukett A.(1996).SGS II ‐ schedule of growing skills: Reference manual NFER Nelson London.

4. Genetic Architecture of Skewed X Inactivation in the Laboratory Mouse

5. Differential Diagnosis of Intracranial Cystic Lesions at Head US: Correlation with CT and MR Imaging

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3. A prenatal case of Simpson-Golabi-Behmel syndrome type 1 with a 0.26-Mb deletion fragment at Xq26.2 inherited from mother;Medicine;2022-04-22