Severe muscle weakness to necessitate rehabilitation in a case of trichorhinophalangeal syndrome type II

Journal of the European Academy of Dermatology and Venereology

Volumn 23, Issue 6, 2009, Pages 710-712

  Nakamura, M ^a,b   Tokura, Y ^b   Futami, T ^c   Miyachi, Y ^a   Utani, A ^a  

^a KYOTO UNIVERSITY   (Japan)

^b UNIVERSITY OF OCCUPATIONAL AND ENVIRONMENTAL HEALTH   (Japan)

^c Medical Center for Children   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ANAMNESIS; ATHLETIC REHABILITATION; CASE REPORT; CHILD; CHONDRODYSPLASIA; CLINICAL EXAMINATION; CLINICAL FEATURE; DISEASE SEVERITY; FEMALE; HUMAN; LETTER; MUSCLE WEAKNESS; PRIORITY JOURNAL; RADIODIAGNOSIS; SCHOOL CHILD;

CHILD; DNA-BINDING PROTEINS; FEMALE; HUMANS; LANGER-GIEDION SYNDROME; MUSCLE WEAKNESS; MUTATION; TRANSCRIPTION FACTORS;

EID: 67649697693     PISSN: 09269959     EISSN: 14683083     Source Type: Journal    
DOI: 10.1111/j.1468-3083.2008.03001.x     Document Type: Letter

References (4)

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2. Ludecke HJ, Ahn J, Lin X et al. Molecular dissection of a contiguous gene syndrome: localization of the genes involved in the Langer-Giedon syndrome. Hum Molec Genet 1995 4 : 31 36.
3. Momeni P, Glöckner G, Schmidt O et al. Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type 1. Nat Genet 2000 24 : 71 74. (Pubitemid 30041424)
4. Suemoto H, Muragaki Y, Nishioka K et al. Trps1 regulates proliferation and apoptosis of chondrocytes through Stat3 signaling. Dev Biol 2007 312 : 572 581. (Pubitemid 350183980)