Severe mandibuloacral dysplasia caused by novel compound heterozygous ZMPSTE24 mutations in two Japanese siblings

Clinical Genetics

Volumn 73, Issue 6, 2008, Pages 535-544

  Miyoshi, Y ^a   Akagi, M ^b   Agarwal, A K ^c   Namba, N ^a,d   Kato Nishimura, K ^a   Mohri, I ^a   Yamagata, M ^a   Nakajima, S ^a   Mushiake, S ^a   Shima, M ^a   Auchus, R J ^c   Taniike, M ^a   Garg, A ^c   Ozono, K ^a  

^a OSAKA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b Otemae Hospital   (Japan)

^c UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^d OSAKA UNIVERSITY   (Japan)

Author keywords

Lamin A; Lipodystrophy; Mandibuloacral dysplasia; Progeroid syndrome; ZMPSTE24

Indexed keywords

LAMIN A; LAMIN C; METALLOPROTEINASE; PRELAMIN A; ZINC METALLOPROTEINASE;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CELL LYSATE; CHILD; DISEASE SEVERITY; EXON; FEMALE; GENE MUTATION; HETEROZYGOSITY; HUMAN; HUMAN CELL; IMMUNOBLOTTING; IMMUNOFLUORESCENCE; JAPANESE; LIPODYSTROPHY; LYMPHOBLAST; MANDIBULOACRAL DYSPLASIA; MISSENSE MUTATION; MUTANT; PATHOPHYSIOLOGY; PHENOTYPE; PRIORITY JOURNAL; SIBLING; SKIN ATROPHY; THIGH; THORAX;

ABNORMALITIES, MULTIPLE; ASIAN CONTINENTAL ANCESTRY GROUP; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; GENOTYPE; HUMANS; LIPODYSTROPHY; MANDIBLE; MEMBRANE PROTEINS; METALLOENDOPEPTIDASES; MUTATION, MISSENSE; NUCLEAR PROTEINS; PHENOTYPE; PRENYLATION; PROTEIN PRECURSORS; SIBLINGS;

EID: 43449130399     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2008.00992.x     Document Type: Article

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