Lenz–Majewski syndrome in a patient from Egypt-Reference-Cited by-同舟云学术

Lenz–Majewski syndrome in a patient from Egypt

Published:2019-08-12 Issue:10 Volume:179 Page:2039-2042
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Afifi Hanan H.¹^ORCID,Abdel‐Hamid Mohamed S.²^ORCID,Mehrez Mennat I.³^ORCID,El‐Kamah Ghada¹,Abdel‐Salam Ghada M. H.¹^ORCID

Affiliation:

1. Clinical Genetics Department, Human Genetics and Genome Research DivisionNational Research Centre Cairo Egypt

2. Medical Molecular Genetics Department, Human Genetics and Genome Research DivisionNational Research Centre Cairo Egypt

3. Orodental Genetics Department, Human Genetics and Genome Research DivisionNational Research Centre Cairo Egypt

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61327

Reference7 articles.

1. OMIM (Online Mendelian Inheritance in Man).2019. Mc Kusick‐Nathans Institute for Genetic Medicine John Hopkins University (Baltiomore MD) and National Center for Biotechnology Information National Library of Medicine (Bethesda MD).http://www.ncbi.nlm.nih.gov/omim/. Last accessed May 20 2019.

2. Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1

3. Analysis of transgenic zebrafish expressing the Lenz-Majewski syndrome gene PTDSS1 in skeletal cell lineages

4. Functional analysis of Chinese hamster phosphatidylserine synthase 1 through systematic alanine mutagenesis

5. Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome

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