Novel association of severe neonatal encephalopathy and Hirschsprung disease in a male with a duplication at the Xq28 region

BMC Medical Genetics

Volumn 11, Issue 1, 2010, Pages

  Fernández, Raquel M ^a,b   Núñez Torres, Rocío ^a,b   González Meneses, Antonio ^a   Antiñolo, Guillermo ^a,b   Borrego, Salud ^a,b  

^a HOSPITAL UNIVERSITARIO VIRGEN DEL ROCÍO   (Spain)

^b CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; PROTEIN L1CAM; UNCLASSIFIED DRUG;

ARTICLE; BRAIN DISEASE; CASE REPORT; CHROMOSOME DUPLICATION; CHROMOSOME XQ; DISEASE ASSOCIATION; DISEASE SEVERITY; GENE; GENE DUPLICATION; GENETIC ASSOCIATION; HETEROZYGOTE; HIRSCHSPRUNG DISEASE; HUMAN; HUMAN TISSUE; L1CAM GENE; LUBS SYNDROME; MALE; MECP2 GENE; MICROARRAY ANALYSIS; MOLECULAR PROBE; NEWBORN; NEWBORN DISEASE; PHENOTYPE; PROTEIN VARIANT; GENETICS; HOSPITALIZATION; NUCLEOTIDE SEQUENCE; PEDIGREE; SYNDROME; X CHROMOSOME;

BRAIN DISEASES; CHROMOSOMES, HUMAN, X; DNA MUTATIONAL ANALYSIS; GENE DUPLICATION; GENOME-WIDE ASSOCIATION STUDY; HIRSCHSPRUNG DISEASE; HUMANS; INFANT, NEWBORN; MALE; PEDIGREE; SEVERITY OF ILLNESS INDEX; SYNDROME;

EID: 77956830463     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-11-137     Document Type: Article

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