Deletion of Xpter encompassing the SHOX gene and PAR1 region in familial patients with Leri-Weill Dyschondrosteosis syndrome

Genetic Counseling

Volumn 20, Issue 1, 2009, Pages 9-17

  Mutesa, L ^a   Vanbellinghen, J F ^a   Hellin, A C ^a   Segers, K ^a   Jamar, M ^a   Pierquin, G ^a   Bours, Vincent ^a  

^a UNIVERSITY OF LIÈGE   (Belgium)

Author keywords

Leri Weill Dyschondrosteosis; PAR1 deletion; Short stature; SHOX gene

Indexed keywords

ADOLESCENT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BONE RADIOGRAPHY; CASE REPORT; CHROMOSOME ANALYSIS; CHROMOSOME XP; CONTROLLED STUDY; DYSCHONDROSTEOSIS; FAMILIAL DISEASE; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE DELETION; GENE PROBE; HETEROZYGOSITY; HUMAN; MALE; MENTAL DEFICIENCY; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PSEUDOAUTOSOMAL 1 REGION; SHORT STATURE; SHORT STATURE HOMEOBOX CONTAINING GENE;

ADOLESCENT; ADULT; CONSANGUINITY; DWARFISM; EPILEPSY; FAMILY HEALTH; FEMALE; HOMEODOMAIN PROTEINS; HUMANS; MALE; MENTAL RETARDATION; OSTEOCHONDRODYSPLASIAS; PEDIGREE; SEQUENCE DELETION; SYNDROME;

EID: 64249131586     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (14)

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