Novel and recurrent germline LEMD3 mutations causing Buschke-Ollendorff syndrome and osteopoikilosis but not isolated melorheostosis

Clinical Genetics

Volumn 75, Issue 6, 2009, Pages 556-561

  Zhang, Yun ^a   Castori, M ^b   Ferranti, G ^b   Paradisi, M ^b   Wordsworth, B P ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b LABORATORIO DI PATOLOGIA VASCOLARE   (Italy)

Author keywords

Buschke Ollendorff syndrome; LEMD3; Melorheostosis; Osteopoikilosis; Variable expression

Indexed keywords

MEMBRANE PROTEIN; PROTEIN LEMD3; UNCLASSIFIED DRUG;

ADULT; ARTICLE; BONE BIOPSY; BONE RADIOGRAPHY; BUSCHKE OLLENDORFF SYNDROME; CALCIFICATION; CASE REPORT; CHILD; CONNECTIVE TISSUE DISEASE; DNA EXTRACTION; ELASTIC FIBER; FAMILY HISTORY; GENE MUTATION; GENETIC ASSOCIATION; GENETIC EPIGENESIS; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HYPEROSTOSIS; MALE; MUTATIONAL ANALYSIS; NEVUS; NUCLEOTIDE SEQUENCE; OSTEOSCLEROSIS; PAPULE; PRIORITY JOURNAL; SKIN BIOPSY;

ADULT; BASE SEQUENCE; BONE AND BONES; CHILD; CONNECTIVE TISSUE DISEASES; FEMALE; GERM-LINE MUTATION; HUMANS; MALE; MELORHEOSTOSIS; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; NUCLEAR PROTEINS; OSTEOPOIKILOSIS; SEQUENCE ANALYSIS, DNA; SKIN; SYNDROME;

EID: 66549090637     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2009.01177.x     Document Type: Article

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