Loss of the SHOX gene associated with Leri-Weill dyschondrosteosis in a 45,X male

Journal of Medical Genetics

Volumn 36, Issue 9, 1999, Pages 711-713

  Stuppia, L ^a,b   Calabrese, G ^a   Borrelli, P ^c   Gatta, V ^a   Morizio, E ^a   Mingarelli, R ^d   Di Gilio, M C ^c   Crino A ^c   Giannotti, A ^c   Rappold, G A ^e   Palka, G ^a,f  

^a UNIVERSITY OF CHIETI   (Italy)

^b Ist Citomorfologia Um Normale P   (Italy)

^c BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^d CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^e UNIVERSITY OF HEIDELBERG   (Germany)

^f NONE   (Italy)

Author keywords

45,X karyotype; Leri Weill syndrome; SHOX gene

Indexed keywords

ADOLESCENT; ARTICLE; CASE REPORT; CLINICAL FEATURE; CROSSING OVER; DYSCHONDROSTEOSIS; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; INTERPHASE; KARYOTYPE 45,X; MALE; MEIOSIS; PHENOTYPE; PRIORITY JOURNAL; X CHROMOSOME; Y CHROMOSOME;

ADOLESCENT; BONE AND BONES; DNA MUTATIONAL ANALYSIS; GENE DELETION; HOMEODOMAIN PROTEINS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; NOONAN SYNDROME; OSTEOCHONDRODYSPLASIAS; POLYMERASE CHAIN REACTION; X CHROMOSOME;

EID: 0032847053     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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