Rethinking genotype-phenotype correlations in papillorenal syndrome: a case report on an unusual congenital camptodactyly and skeletal deformity with a heterogeneous PAX2 mutation of hexanucleotide duplication-Reference-Cited by-同舟云学术

Rethinking genotype-phenotype correlations in papillorenal syndrome: a case report on an unusual congenital camptodactyly and skeletal deformity with a heterogeneous PAX2 mutation of hexanucleotide duplication

Published:2018-01 Issue: Volume:641 Page:74-77
ISSN:0378-1119
Container-title:Gene
language:en
Short-container-title:Gene

Author:

Liu Jiewei,Wang Ping,Huang Juan,Yu Zihua

Funder

National Natural Science Foundation of China

Major Project of Nanjing Military Command

Key Project of Social Development of Fujian Province of China

Nature Science Foundation of Fujian Province of China

Publisher

Elsevier BV

Subject

Genetics,General Medicine

Reference17 articles.

1. Locked metacarpophalangeal joint associated with PAX2 gene mutation: a case report;Atlan;J. Hand Surg. Eur. Vol.,2010

2. Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database;Bower;Hum. Mutat.,2012

3. Missense mutation and hexanucleotide duplication in the PAX2 gene in two unrelated families with renal-coloboma syndrome (MIM 120330);Devriendt;Hum. Genet.,1998

4. BMP and hedgehog signaling during the development of scleral ossicles;Duench;Dev. Biol.,2012

5. Macular abnormalities and optic disk anomaly associated with a new PAX2 missense mutation;Higashide;Am J. Ophthalmol.,2005

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2. Diverse phenotypes in children with PAX2 ‐related disorder;Molecular Genetics & Genomic Medicine;2019-05-06

3. Pax2 is essential for proliferation and osteogenic differentiation of mouse mesenchymal stem cells via Runx2;Experimental Cell Research;2018-10