Overlapping phenotype comprising Kenny‐Caffey type 2 and Sanjad‐Sakati syndromes: The first case report-Reference-Cited by-同舟云学术

Overlapping phenotype comprising Kenny‐Caffey type 2 and Sanjad‐Sakati syndromes: The first case report

Published:2020-10-03 Issue:12 Volume:182 Page:3029-3034
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Cavole Thiago Rodrigues¹^ORCID,Perrone Eduardo¹^ORCID,Faria Soares Maria de Fatima²,Dias da Silva Magnus Régios³,Maeda Sergio Setsuo³,Lazaretti‐Castro Marise³,Alvarez Perez Ana Beatriz¹

Affiliation:

1. Department of Medical Genetics Escola Paulista de Medicina, Universidade Federal de São Paulo São Paulo Brazil

2. Department of Radiology Escola Paulista de Medicina, Universidade Federal de São Paulo São Paulo Brazil

3. Division of Endocrinology, Department of Medicine, Escola Paulista de Medicina Universidade Federal de São Paulo São Paulo Brazil

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61896

Reference30 articles.

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2. The dentofacial features of Sanjad-Sakati syndrome: a case report

3. Clinical features and tubulin folding cofactor E gene analysis in Iranian patients with Sanjad–Sakati syndrome;Aminzadeh M.;Jornal de Pediatria,2020

4. Sanjad Sakati syndrome: a case series from Jordan;Albaramki, J.;Eastern Mediterranean Health Journal,2012

5. Congenital stenosis of medullary spaces in tubular bones and calvaria in two proportionate dwarfs—Mother and son; coupled with transitory hypocalcemic tetany;Caffey J.;American Journal of Roentgenology,1967

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4. Unravelling the Intricate Roles of FAM111A and FAM111B: From Protease-Mediated Cellular Processes to Disease Implications;International Journal of Molecular Sciences;2024-02-29

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