A novel class of pseudoautosomal region 1 deletions downstream of SHOX is associated with Léri-Weill dyschondrosteosis

American Journal of Human Genetics

Volumn 77, Issue 4, 2005, Pages 533-544

  Benito Sanz, Sara ^a   Thomas, N Simon ^b   Huber, Céline ^c   Del Blanco, Darya Gorbenko ^a   Aza Carmona, Miriam ^a   Crolla, John A ^b   Maloney, Vivienne ^b   Argente, Jesús ^a   Campos Barros, Ángel ^a   Cormier Daire, Valérie ^c   Heath, Karen E ^a  

^a HOSPITAL INFANTIL UNIVERSITARIO NIÑO JESÚS   (Spain)

^b SALISBURY DISTRICT HOSPITAL   (United Kingdom)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT DISORDER; BONE DEVELOPMENT; BONE DYSPLASIA; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; COHORT ANALYSIS; DISEASE SEVERITY; DYSCHONDROSTEOSIS; FEMALE; FRANCE; GENE; GENE DELETION; GENE MAPPING; GENE SEGREGATION; GENE STRUCTURE; GENETIC HETEROGENEITY; GENETIC SCREENING; HOMEOBOX; HOMOZYGOSITY; HUMAN; IDIOPATHIC DISEASE; LANGER MESOMELIC DYSPLASIA; MALE; MICROSATELLITE MARKER; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; PSEUDOAUTOSOMAL REGION 1; REGULATORY SEQUENCE; SHORT STATURE; SHORT STATURE HOMEOBOX CONTAINING GENE;

EID: 25444470259     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/449313     Document Type: Article

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