Wide phenotypic variability in families with holoprosencephaly and a sonic hedgehog mutation

European Journal of Pediatrics

Volumn 163, Issue 7, 2004, Pages 347-352

  Hehr, Ute ^a   Gross, Claudia ^a   Diebold, Uta ^b   Wahl, Dagmar ^c   Beudt, Ulrike ^d   Heidemann, Peter ^e   Hehr, Andreas ^a   Mueller, Dietmar ^f  

^a Repro Medicine and Human Genetics   (Germany)

^b Socialpaediatric Centre   (Germany)

^c Pract for Paediatr and Med Genet   (Germany)

^d Pract for Paediatr and Med Genet   (Germany)

^e Children's Hospital   (Germany)

^f Children's Hospital   (Germany)

Author keywords

Holoprosencephaly; Phenotypic variability; Sonic hedgehog mutations

Indexed keywords

ARTICLE; CHOANA ATRESIA; CLINICAL ARTICLE; CLINICAL FEATURE; CRANIOFACIAL MALFORMATION; FEMALE; GENE; GENE MUTATION; GENETIC VARIABILITY; HOLOPROSENCEPHALY; HUMAN; MALE; MENTAL DEFICIENCY; MICROCEPHALY; MOLECULAR GENETICS; NEWBORN; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD; SONIC HEDGEHOG GENE; TELOMERE;

EID: 3142743271     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00431-004-1459-0     Document Type: Article

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