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Literature DB >> 20177829

Polydactyly and genes.

Abstract

Pediatricians deal with cases with the congenital malformations and malformation syndromes interest many of them. A lot of information about genes involved in development is available now. Genetics of hand development and genes involved in polydactyly syndromes is discussed in this article as a prototype to know about genetics of malformations: how it is studied and what is known. Genetic and chromosomal defects are often associated with congenital malformations. Polydactyly is one of the commonly seen malformations and genetic defects of many malformation syndromes associated with polydactyly are known. The role of genetic defect in polydactyly syndromes and the correlation between genotypes and phenotypes is discussed in this review article.

Entities: Disease

Mesh：

Year: 2010 PMID： 20177829 DOI： 10.1007/s12098-010-0033-1

Source DB: PubMed Journal: Indian J Pediatr ISSN： 0019-5456 Impact factor: 1.967

25 in total

1. Complex camptopolydactyly: an unusual hand malformation.

Authors: S R Phadke; P Gautam
Journal: Am J Med Genet Date: 1999-03-19

2. Genetics. The land between Mendelian and multifactorial inheritance.

Authors: A H Burghes; H E Vaessin; A de La Chapelle
Journal: Science Date: 2001-09-21 Impact factor: 47.728

Review 3. The sonic hedgehog-patched-gli pathway in human development and disease.

Authors: E H Villavicencio; D O Walterhouse; P M Iannaccone
Journal: Am J Hum Genet Date: 2000-09-21 Impact factor: 11.025

4. Segmentation anomalies of the vertebras and ribs: one expression of the primary developmental field.

Authors: M L Martínez-Frías
Journal: Am J Med Genet A Date: 2004-07-15 Impact factor: 2.802

Review 5. Congenital abnormalities of body patterning: embryology revisited.

Authors: Frances R Goodman
Journal: Lancet Date: 2003-08-23 Impact factor: 79.321

6. Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome.

Authors: S D Dreyer; G Zhou; A Baldini; A Winterpacht; B Zabel; W Cole; R L Johnson; B Lee
Journal: Nat Genet Date: 1998-05 Impact factor: 38.330

7. Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13.

Authors: Y Muragaki; S Mundlos; J Upton; B R Olsen
Journal: Science Date: 1996-04-26 Impact factor: 47.728

8. Human disease-causing NOG missense mutations: effects on noggin secretion, dimer formation, and bone morphogenetic protein binding.

Authors: J Marcelino; C M Sciortino; M F Romero; L M Ulatowski; R T Ballock; A N Economides; P M Eimon; R M Harland; M L Warman
Journal: Proc Natl Acad Sci U S A Date: 2001-09-18 Impact factor: 11.205

Review 9. Malformations of the craniofacial region: evolutionary, embryonic, genetic, and clinical perspectives.

Authors: M Michael Cohen
Journal: Am J Med Genet Date: 2002-12-30

Review 10. Craniofacial anomalies: from development to molecular pathogenesis.

Authors: David P C Rice
Journal: Curr Mol Med Date: 2005-11 Impact factor: 2.222

4 in total

1. Exome sequencing revealed a splice site variant in the IQCE gene underlying post-axial polydactyly type A restricted to lower limb.

Authors: Muhammad Umair; Khadim Shah; Bader Alhaddad; Tobias B Haack; Elisabeth Graf; Tim M Strom; Thomas Meitinger; Wasim Ahmad
Journal: Eur J Hum Genet Date: 2017-05-10 Impact factor: 4.246