A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome

Human Genetics

Volumn 120, Issue 2, 2006, Pages 171-178

  Budny, Bartlomiej ^a,c   Chen, Wei ^a   Omran, Heymut ^c   Fliegauf, Manfred ^c   Tzschach, Andreas ^a   Wisniewska, Marzena ^b   Jensen, Lars R ^a   Raynaud, Martine ^d   Shoichet, Sarah A ^a   Badura, Magda ^b   Lenzner, Steffen ^a   Latos Bielenska, Anna ^b   Ropers, Hans Hilger ^a  

^a MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^b POZNAN UNIVERSITY OF MEDICAL SCIENCES   (Poland)

^c UNIVERSITY OF FREIBURG   (Germany)

^d CHU BRETONNEAU   (France)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT;

ALLELE; ARTICLE; CILIARY MOTILITY; CLINICAL ARTICLE; DEATH; DISEASE SEVERITY; DYSOSTOSIS; FAMILY; FRAMESHIFT MUTATION; GENE MUTATION; HETEROZYGOTE; HUMAN; MACROCEPHALY; MALE; MICROSCOPY; NOSE MUCOSA; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; RECURRENT INFECTION; RESPIRATORY TRACT INFECTION; SCHOOL CHILD; X CHROMOSOME RECESSIVE DISORDER; X LINKED MENTAL RETARDATION;

ALLELES; BLOTTING, NORTHERN; CHILD; CHROMOSOME MAPPING; CILIARY MOTILITY DISORDERS; CRANIOFACIAL ABNORMALITIES; DNA, COMPLEMENTARY; FEMALE; FRAMESHIFT MUTATION; GENES, RECESSIVE; HETEROZYGOTE; HUMANS; MALE; MENTAL RETARDATION, X-LINKED; PEDIGREE; PROTEINS; SYNDROME;

EID: 33746990273     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-006-0210-5     Document Type: Article

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