Osteopathia striata cranial sclerosis: Non-random x-inactivation suggestive of X-linked dominant inheritance

American Journal of Medical Genetics

Volumn 107, Issue 1, 2002, Pages 1-4

  Viot, Géraldine ^a   Lacombe, Didier ^b   David, Albert ^c   Mathieu, Michèle ^d   De Broca, Alain ^d   Faivre, Laurence ^a   Gigarel, Nadine ^a   Munnich, Arnold ^a   Lyonnet, Stanislas ^a   Le Merrer, Martine ^a   Cormier Daire, Valérie ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b Service of Genetics   (France)

^c Lab de Bacteriol   (France)

^d Service of Genetics   (France)

Author keywords

Coronal craniostenosis; Cranial sclerosis; Hirschsprung disease; Osteopathia striata; X linked inheritance

Indexed keywords

ARTICLE; BONE MALFORMATION; BONE RADIOGRAPHY; CLINICAL ARTICLE; CLINICAL FEATURE; CONDUCTION DEAFNESS; CRANIOFACIAL SYNOSTOSIS; DIAGNOSTIC IMAGING; DIAGNOSTIC PROCEDURE; FEMALE; HIRSCHSPRUNG DISEASE; HUMAN; LARYNGOMALACIA; LYMPHOCYTE; MACROCEPHALY; MALE; MENTAL DEFICIENCY; METAPHYSIS; MORBIDITY; MORTALITY; OSTEOPATHIA STRIATA CRANIAL SCLEROSIS; PHENOTYPE; PIERRE ROBIN SYNDROME; PRIORITY JOURNAL; PROGNOSIS; SEX RATIO; SYNDROME; TRACHEOMALACIA; X CHROMOSOME DOMINANT DISORDER; X CHROMOSOME INACTIVATION;

ABNORMALITIES, MULTIPLE; BONE DISEASES, DEVELOPMENTAL; DOSAGE COMPENSATION, GENETIC; FEMALE; GENES, DOMINANT; HUMANS; MALE; OSTEOSCLEROSIS; PEDIGREE; SKULL; SYNDROME;

EID: 18244378307     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.10028     Document Type: Article

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