Mandibuloacral dysplasia with type B lipodystrophy in a patient from Chile-Reference-Cited by-同舟云学术

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Mandibuloacral dysplasia with type B lipodystrophy in a patient from Chile

Published:2019-03-28 Issue:6 Volume:179 Page:893-895
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Alarcón Pablo I.¹^ORCID,Mujica Ignacia²,Sanz Patricia³¹,García Cristian J.⁴,Gilgenkrantz Simone⁵

Affiliation:

1. Departamento de Medicina, Sección GenéticaHospital Clínico Universidad de Chile Santiago, Región Metropolitana Chile

2. Facultad de MedicinaUniversidad San Sebastián Santiago, Región Metropolitana Chile

3. Departamento de PediatríaHospital San Juan de Dios Santiago, Región Metropolitana Chile

4. Facultad de Medicina, Departamento de RadiologíaPontificia Universidad Católica Santiago, Región Metropolitana Chile

5. Génétique HumaineFaculté de médecine, Université de Lorraine Nancy France

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61139

Reference5 articles.

1. Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia

2. Early onset mandibuloacral dysplasia due to compound heterozygous mutations in ZMPSTE24

3. A Novel Homozygous Ala529ValLMNAMutation in Turkish Patients with Mandibuloacral Dysplasia

4. Premature adrenal cortical dysfunction in mandibuloacral dysplasia: A progeroid-like syndrome

5. Chapter 37—Lipodystrophy syndromes A2 2016 W.B. Saunders Philadelphia PA M. A. Tsoukas C. S. Mantzoros J. L. Jameson L. J. Groot D. M. Kretser L. C. Giudice A. B. Grossman S. Melmed Endocrinology: Adult and Pediatric 648 661

Cited by 5 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report;Revista Paulista de Pediatria;2024

2. A novel MTX2 gene splice site variant resulting in exon skipping, causing the recently described mandibuloacral dysplasia progeroid syndrome;American Journal of Medical Genetics Part A;2022-10-21

3. An exceptional biallelic N-terminal frame shift mutation in ZMPSTE24 leads to non-lethal progeria due to possible utilization of a downstream alternative start codon;Gene;2022-07

4. Mandibuloacral dysplasia type B (MADB): a cohort of eight patients from Suriname with a homozygous founder mutation in ZMPSTE24 (FACE1), clinical diagnostic criteria and management guidelines;Orphanet Journal of Rare Diseases;2019-12

5. Onward and upward;American Journal of Medical Genetics Part A;2019-05-29

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