GLI2 mutations in four Brazilian patients: How wide is the phenotypic spectrum?

American Journal of Medical Genetics, Part A

Volumn 140, Issue 23, 2006, Pages 2571-2576

  Rahimov, Fedik ^a   Ribeiro, Lucilene Arilho ^a   De Miranda, Eziquiel ^a   Richieri Costa, Antonio ^a   Murray, Jeffrey C ^b  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b UNIVERSITY OF IOWA   (United States)

Author keywords

Branchial arch anomalies; Double heterozygotes; Holoprosencephaly; Holoprosencephaly like phenotype; Missense mutations; PTCH

Indexed keywords

ANOPHTHALMIA; APLASIA; BRANCHIAL ARCH; BRAZIL; CENTRAL NERVOUS SYSTEM MALFORMATION; CLINICAL FEATURE; CONFERENCE PAPER; CRANIOFACIAL MALFORMATION; FEMALE; GENE; GENE MUTATION; GENETIC ASSOCIATION; GENOTYPE PHENOTYPE CORRELATION; GLI2 GENE; HEMIFACIAL MICROSOMIA; HEMINASAL APLASIA; HOLOPROSENCEPHALY; HUMAN; MAJOR CLINICAL STUDY; OCULOAURICULOFRONTONASAL SYNDROME; ORBIT DISEASE; PRIORITY JOURNAL; PTCH GENE;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ANOPHTHALMOS; BRAZIL; CENTRAL NERVOUS SYSTEM; CHILD; FACIAL BONES; FEMALE; HOLOPROSENCEPHALY; HUMANS; KRUPPEL-LIKE TRANSCRIPTION FACTORS; MAGNETIC RESONANCE IMAGING; MUTATION; NOSE; NUCLEAR PROTEINS; PHENOTYPE;

EID: 33845245610     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31370     Document Type: Conference Paper

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