Molecular study of six families originating from the Middle-East and presenting with autosomal recessive osteopetrosis-Reference-Cited by-同舟云学术

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Molecular study of six families originating from the Middle-East and presenting with autosomal recessive osteopetrosis

Published:2007-05 Issue:3 Volume:50 Page:188-199
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Souraty Noëlle,Noun Peter,Djambas-Khayat Claudia,Chouery Eliane,Pangrazio Alessandra,Villa Anna,Lefranc Gérard,Frattini Annalisa,Mégarbané André

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference16 articles.

1. Autosomal recessive osteopetrosis in Arab children;Abdel-Al;Ann. Trop. Paediatr.,1994

2. Birth prevalence and pattern of osteochondrodysplasias in an inbred high risk population;Al-Gazali;Birth Defects Res. A. Clin. Mol. Teratol.,2003

3. Osteopetrosis in children;al-Rasheed;Int. J. Clin. Pract.,1998

4. Grey-lethal mutation induces severe malignant autosomal recessive osteopetrosis in mouse and human;Chalhoub;Nat. Med.,2003

5. Defects in the TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis;Frattini;Nat. Genet.,2000

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1. Consanguinity;Reference Module in Life Sciences;2024

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3. The clinical features of OSTM1 ‐associated malignant infantile osteopetrosis: A retrospective, single‐center experience over one decade;American Journal of Medical Genetics Part A;2022-11-11

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5. Neonatal hydrocephalus: an atypical presentation of malignant infantile osteopetrosis;Child's Nervous System;2021-09-14

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