Catel–Manzke syndrome: Further delineation of the phenotype associated with pathogenic variants in TGDS-Reference-Cited by-同舟云学术

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Catel–Manzke syndrome: Further delineation of the phenotype associated with pathogenic variants in TGDS

Published:2015-09 Issue: Volume:4 Page:89-91
ISSN:2214-4269
Container-title:Molecular Genetics and Metabolism Reports
language:en
Short-container-title:Molecular Genetics and Metabolism Reports

Author:

Pferdehirt Rachel,Jain Mahim,Blazo Maria A.,Lee Brendan,Burrage Lindsay C.

Funder

National Urea Cycle Disorders Foundation Fellowship

Urea Cycle Disorders Consortium

National Institutes of Health

IDDRC

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology

Reference10 articles.

1. Differentialdiagnose von Krankheitssymptomen bei Kindern und Jugendlichen;Catel,1961

2. Symmetrical hyperphalangy of the second finger by a supplementary metacarpus bone;Manzke;Fortschr. Geb. Rontgenstr. Nuklearmed.,1966

3. Homozygous and compound-heterozygous mutations in TGDS cause Catel–Manzke syndrome;Ehmke;Am. J. Hum. Genet.,2014

4. Catel–Manzke syndrome: two new patients and a critical review of the literature;Manzke;Eur. J. Med. Genet.,2008

5. Hyperphalangy and clinodactyly of the index finger with Pierre Robin anomaly: Catel–Manzke syndrome. A case report and review of the literature;Sundaram;Clin. Genet.,1982

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3. A Homozygous Deletion of Exon 5 of KYNU Resulting from a Maternal Chromosome 2 Isodisomy (UPD2) Causes Catel-Manzke-Syndrome/VCRL Syndrome;Genes;2021-06-07

4. Catel–Manzke syndrome without Manzke dysostosis;American Journal of Medical Genetics Part A;2019-12-12

5. TGDS pathogenic variants cause Catel‐Manzke syndrome without hyperphalangy;American Journal of Medical Genetics Part A;2019-11-25

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