Clinical, genetic, and molecular aspects of split-hand/foot malformation: An update

Split hand/foot malformation with long-bone deficiency andBHLHA9duplication: report of 13 new families

(2013) F. Petit et al.   CLINICAL GENETICS

Three new patients with FATCO: Fibular agenesis with ectrodactyly

(2012) Tadeusz Bieganski et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Acro-cardio-facial syndrome: A microdeletion syndrome?

(2012) Benedetta Toschi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A 0.7 Mb de novo duplication at 7q21.3 including the genesDLX5andDLX6in a patient with split-hand/split-foot malformation

(2012) Milen Velinov et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A rare case of split hand/foot malformation with sensorineural hearing loss and Mondini dysplasia

(2012) Alper Gezdirici et al.   CLINICAL DYSMORPHOLOGY

Split-hand/foot malformation with long-bone deficiency and BHLHA9 duplication: Two cases and expansion of the phenotype to radial agenesis

(2012) Florence Petit et al.   European Journal of Medical Genetics

Coding exons function as tissue-specific enhancers of nearby genes

(2012) Ramon Y. Birnbaum et al.   GENOME RESEARCH

Functional characterization of tissue-specific enhancers in the DLX5/6 locus

(2012) Ramon Y. Birnbaum et al.   HUMAN MOLECULAR GENETICS

Cleft palate and ADULT phenotype in a patient with a novel TP63 mutation suggests lumping of EEC/LM/ADULT syndromes into a unique entity: ELA syndrome

(2011) Paolo Prontera et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Somatic/gonadal mosaicism in a syndromic form of ectrodactyly, including eye abnormalities, documented through array-based comparative genomic hybridization

(2011) Aguinaldo Bonalumi Filho et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A Regulatory Archipelago Controls Hox Genes Transcription in Digits

(2011) Thomas Montavon et al.   CELL

A novel homozygous missense mutation in WNT10B in familial split-hand/foot malformation

(2011) S Khan et al.   CLINICAL GENETICS

17p13.3 microduplications are associated with split-hand/foot malformation and long-bone deficiency (SHFLD)

(2011) Christine M Armour et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A de novo 1.1Mb microdeletion of chromosome 19p13.11 provides indirect evidence for EPS15L1 to be a strong candidate for split hand split foot malformation

(2011) Susanne Bens et al.   European Journal of Medical Genetics

Duplications ofBHLHA9are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion

(2011) Eva Klopocki et al.   JOURNAL OF MEDICAL GENETICS

Identification of a novelDLX5mutation in a family with autosomal recessive split hand and foot malformation

(2011) Hanan E Shamseldin et al.   JOURNAL OF MEDICAL GENETICS

Homozygous nonsense mutation in WNT10B and sporadic split-hand/foot malformation (SHFM) with autosomal recessive inheritance

(2010) Ariane Blattner et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Genotype-phenotype correlation in eight new patients with a deletion encompassing 2q31.1

(2010) Diana Mitter et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The breakpoints of the EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip/palate) confirmed to 7q11.21 and 9p12 by fluorescence in situ hybridization

(2010) Yoshimitsu Fukushima et al.   CLINICAL GENETICS

2q31.1 microdeletion syndrome: redefining the associated clinical phenotype

(2010) B. Dimitrov et al.   JOURNAL OF MEDICAL GENETICS

Genome-Wide Profiling of p63 DNA–Binding Sites Identifies an Element that Regulates Gene Expression during Limb Development in the 7q21 SHFM1 Locus

(2010) Evelyn N. Kouwenhoven et al.   PLoS Genetics

Split hand-foot malformation, tetralogy of Fallot, mental retardation and a 1 Mb 19p deletion-evidence for further heterogeneity?

(2009) Emmelien Aten et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A novel microdeletion at chromosome 2q31.1-31.2 in a three-generation family presenting duplication of great toes with clinodactyly

(2009) L-P Tsai et al.   CLINICAL GENETICS

Characterization of two ectrodactyly-associated translocation breakpoints separated by 2.5 Mb on chromosome 2q14.1–q14.2

(2009) Dezső David et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

4q32–q35 and 6q16–q22 are valuable candidate regions for split hand/foot malformation

(2009) Dunja Niedrist et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Distal limb deficiencies, micrognathia syndrome, and syndromic forms of split hand foot malformation (SHFM) are caused by chromosome 10q genomic rearrangements

(2009) B. I. Dimitrov et al.   JOURNAL OF MEDICAL GENETICS

Regulation of Dlx5 and Dlx6 gene expression by p63 is involved in EEC and SHFM congenital limb defects

(2008) N. Lo Iacono et al.   DEVELOPMENT

Deletion of the SCN gene cluster on 2q24.4 is associated with severe epilepsy: An array-based genotype–phenotype correlation and a comprehensive review of previously published cases

(2008) Josef Davidsson et al.   EPILEPSY RESEARCH

A novel locus for split-hand/foot malformation associated with tibial hemimelia (SHFLD syndrome) maps to chromosome region 17p13.1–17p13.3

(2008) Karina Lezirovitz et al.   HUMAN GENETICS

Homozygous WNT10b mutation and complex inheritance in Split-Hand/Foot Malformation

(2008) Sibel Aylin Ugur et al.   HUMAN MOLECULAR GENETICS

A novel translation re-initiation mechanism for the p63 gene revealed by amino-terminal truncating mutations in Rapp-Hodgkin/Hay-Wells-like syndromes

(2008) T. Rinne et al.   HUMAN MOLECULAR GENETICS

Characterization of mouse Dactylaplasia mutations: a model for human ectrodactyly SHFM3

(2008) Marc Friedli et al.   MAMMALIAN GENOME