Geroderma osteodysplastica maps to a 4 Mb locus on chromosome 1q24

American Journal of Medical Genetics, Part A

Volumn 146, Issue 23, 2008, Pages 3034-3037

  Newman, William G ^a,b   Clayton Smith, Jill ^a,b   Metcalfe, Kay ^b   Cole, Rachel ^b   Tartaglia, Marco ^c   Brancati, Francesco ^d,e   Morara, Sara ^d   Novelli, Antonio ^d   Liu, Xiangdong ^f,g   Siminovitch, Katherine A ^f,g   Mundlos, Stefan ^h   Tassabehji, May ^a   Black, Graeme C M ^a,b  

^a UNIVERSITY OF MANCHESTER   (United Kingdom)

^b ST MARY S HOSPITAL   (United Kingdom)

^c ISTITUTO SUPERIORE DI SANITÀ   (Italy)

^d CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^e UNIVERSITY OF CHIETI   (Italy)

^f MOUNT SINAI HOSPITAL   (Canada)

^g UNIVERSITY OF TORONTO   (Canada)

^h CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

Author keywords

Autozygosity; Chromosome 1q24; Geroderma osteodysplastica; Osteoporosis; Wrinkly skin

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL DISORDER; BONE DYSPLASIA; CHILD; CHROMOSOME 1Q; CLINICAL ARTICLE; CONSANGUINITY; DISEASE SEVERITY; FEMALE; GENE LOCUS; GENE MAPPING; GENETIC LINKAGE; GENOTYPE; GERODERMA OSTEODYSPLASTICA; HOMOZYGOSITY; HUMAN; INFANT; MALE; OSTEOPOROSIS; PEDIGREE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; WRINKLE;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ADULT; CHROMOSOMES, HUMAN, PAIR 1; CONNECTIVE TISSUE DISEASES; CONSANGUINITY; FEMALE; GENES, RECESSIVE; HUMANS; INFANT; LIBYA; MALE; MICROSATELLITE REPEATS; OSTEOPOROSIS; PAKISTAN; PEDIGREE; PHYSICAL CHROMOSOME MAPPING; PROTON-TRANSLOCATING ATPASES; SKIN AGING; SKIN DISEASES, GENETIC; YOUNG ADULT; ZYGOTE;

EID: 57149093445     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32564     Document Type: Article

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