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Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome
Download from www.researchgate.netGLI3 is rarely implicated in OFD syndromes with midline abnormalities
Download from www.researchgate.netThe ADAMTS(L) family and human genetic disorders
Download from academic.oup.comThe Male Phenotype in Osteopathia Striata Congenita With Cranial Sclerosis
Download from www.researchgate.netKIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes
Download from www.ncbi.nlm.nih.govNosology and Classification of Genetic Skeletal Disorders: 2010 Revision
Download from doi.orgTruncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis
Download from www.nature.comClinical utility gene card for: 3M syndrome
Download from www.nature.comC14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome
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