TY  - GEN
AU  - Speksnijder,Leonie
AU  - Cohen-Overbeek,Titia E
AU  - Knapen,Maarten F C M
AU  - Lunshof,Simone M
AU  - Hoogeboom,A Jeannette M
AU  - van den Ouwenland,Ans M
AU  - de Coo,Irenaneus F M
AU  - Lequin,Maarten H
AU  - Bolz,Hanno J
AU  - Bergmann,Carsten
AU  - Biesecker,Leslie G
AU  - Willems,Patrick J
AU  - Wessels,Marja W
TI  - A de novo GLI3 mutation in a patient with acrocallosal syndrome
SN  - 1552-4833
PY  - 2016///0415
KW  - Abnormalities, Multiple
KW  - diagnosis
KW  - Acrocallosal Syndrome
KW  - Acrocephalosyndactylia
KW  - Amino Acid Substitution
KW  - Craniosynostoses
KW  - Diagnosis, Differential
KW  - Female
KW  - Genetic Association Studies
KW  - Heterozygote
KW  - Humans
KW  - Infant
KW  - Kruppel-Like Transcription Factors
KW  - genetics
KW  - Mutation, Missense
KW  - Nerve Tissue Proteins
KW  - Phenotype
KW  - Pregnancy
KW  - Prenatal Diagnosis
KW  - Zinc Finger Protein Gli3
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1002/ajmg.a.35874
ER  -