Related references
Note: Only part of the references are listed.A classification system for split-hand/foot malformation (SHFM): A proposal based on 3 pedigrees with WNT10B mutations
Malak A. Al Ghamdi et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2020)
Identification of novel missense mutations associated with non-syndromic syndactyly in two vietnamese trios by whole exome sequencing
Nguyen Thy Ngoc et al.
CLINICA CHIMICA ACTA (2020)
A Review of the Genetics and Pathogenesis of Syndactyly in Humans and Experimental Animals: A 3-Step Pathway of Pathogenesis
Mohammad M. Al-Qattan
BIOMED RESEARCH INTERNATIONAL (2019)
Two distinct DNA sequences recognized by transcription factors represent enthalpy and entropy optima
Ekaterina Morgunova et al.
ELIFE (2018)
Identification of a missense HOXD13 mutation in a Chinese family with syndactyly type I-c using exome sequencing
Hao Deng et al.
MOLECULAR MEDICINE REPORTS (2017)
A Homozygous HOXD13 Missense Mutation Causes a Severe Form of Synpolydactyly with Metacarpal to Carpal Transformation
Daniel M. Ibrahim et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2016)
Joining the Fingers: A HOXD13 Story
Nathalie Brison et al.
DEVELOPMENTAL DYNAMICS (2014)
Mutations in the Homeodomain of HOXD13 Cause Syndactyly Type 1-c in Two Chinese Families
Limeng Dai et al.
PLOS ONE (2014)
Whole exome sequencing identifies FGF16 nonsense mutations as the cause of X-linked recessive metacarpal 4/5 fusion
Aleksander Jamsheer et al.
JOURNAL OF MEDICAL GENETICS (2013)
Homozygous nonsense mutation in HOXD13 underlies synpolydactyly with a cleft
Karen J. Low et al.
CLINICAL DYSMORPHOLOGY (2012)
Syndactyly: phenotypes, genetics and current classification
Sajid Malik
EUROPEAN JOURNAL OF HUMAN GENETICS (2012)
How Many Entities Exist for the Spectrum of Disorders Associated With Brachydactyly, Syndactyly, Short Stature, Microcephaly, and Intellectual Disability?
Aime Ravel et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2011)
Comprehensive Mutational Analysis and mRNA Isoform Quantification of TP63 in Normaland Neoplastic Human Prostate Cells
J. Kellogg Parsons et al.
PROSTATE (2009)
Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome
Xiuli Zhao et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
Increasing Fgf4 expression in the mouse limb bud causes polysyndactyly and rescues the skeletal defects that result from loss of Fgf8 function
PF Lu et al.
DEVELOPMENT (2006)
The Rapp-Hodgkin syndrome results from mutations of the TP63 gene
G Bougeard et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2003)
Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia
WA Paznekas et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2003)
Analysis of the p63 gene in classical EEC syndrome, related syndromes, and non-syndromic orofacial clefts
LL Barrow et al.
JOURNAL OF MEDICAL GENETICS (2002)
EEC (Ectrodactyly, Ectodermal dysplasia, Clefting) syndrome:: heterozygous mutation in the p63 gene (R279H) and DNA-based prenatal diagnosis
AP South et al.
BRITISH JOURNAL OF DERMATOLOGY (2002)
p63 gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation
H van Bokhoven et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)
Fgf8 signalling from the AER is essential for normal limb development
M Lewandoski et al.
NATURE GENETICS (2000)
Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27
P Ianakiev et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2000)
Share Paper
