A de novo GLI3 mutation in a patient with acrocallosal syndrome

American Journal of Medical Genetics, Part A

Volumn 161, Issue 6, 2013, Pages 1394-1400

  Speksnijder, Leonie ^a   Cohen Overbeek, Titia E ^a   Knapen, Maarten F C M ^a   Lunshof, Simone M ^b   Hoogeboom, A Jeannette M ^a   van den Ouwenland, Ans M ^a   de Coo, Irenaneus F M ^a   Lequin, Maarten H ^a   Bolz, Hanno J ^c   Bergmann, Carsten ^c   Biesecker, Leslie G ^d   Willems, Patrick J ^e   Wessels, Marja W ^a  

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b AMPHIA HOSPITAL   (Netherlands)

^c Bioscientia Center for Human Genetics   (Germany)

^d NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^e Genetic Diagnostics Belgium   (Belgium)

Author keywords

Acrocallosal syndrome; GLI3 mutation; Greig cephalopolysyndactyly syndrome; Prenatal diagnosis

Indexed keywords

ANTICONVULSIVE AGENT; CYTOSINE; LEUCINE; PROLINE; THYMINE; TRANSCRIPTION FACTOR GLI3; GLI3 PROTEIN, HUMAN; KRUPPEL LIKE FACTOR; NERVE PROTEIN;

ACROCALLOSAL SYNDROME; AMINO ACID SUBSTITUTION; ARTICLE; BRAIN VENTRICLE PERITONEUM SHUNT; CASE REPORT; CLINICAL FEATURE; CONGENITAL MALFORMATION; CORPUS CALLOSUM AGENESIS; CRANIOFACIAL SYNOSTOSIS; EPILEPSY; EYE MALFORMATION; FEMALE; FETUS; FETUS ECHOGRAPHY; FOOT RADIOGRAPHY; GLI3 GENE; GREIG CEPHALOPOLYSYNDACTYLY SYNDROME; HAND RADIOGRAPHY; HETEROZYGOSITY; HUMAN; INFANT; INTRACRANIAL HYPERTENSION; LANGUAGE DELAY; MACROCEPHALY; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; SKULL RADIOGRAPHY; SYNDACTYLY; WIDELY SPACED EYE; ABNORMALITIES, MULTIPLE; ACROCEPHALOSYNDACTYLIA; CRANIOSYNOSTOSES; DIFFERENTIAL DIAGNOSIS; GENETIC ASSOCIATION STUDY; GENETICS; HETEROZYGOTE; PHENOTYPE; PREGNANCY; PRENATAL DIAGNOSIS;

ABNORMALITIES, MULTIPLE; ACROCALLOSAL SYNDROME; ACROCEPHALOSYNDACTYLIA; AMINO ACID SUBSTITUTION; CRANIOSYNOSTOSES; DIAGNOSIS, DIFFERENTIAL; FEMALE; GENETIC ASSOCIATION STUDIES; HETEROZYGOTE; HUMANS; INFANT; KRUPPEL-LIKE TRANSCRIPTION FACTORS; MUTATION, MISSENSE; NERVE TISSUE PROTEINS; PHENOTYPE; PREGNANCY; PRENATAL DIAGNOSIS;

EID: 84878260413     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35874     Document Type: Article

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