A de novoGLI3mutation in a patient with acrocallosal syndrome

NovelKIF7mutations extend the phenotypic spectrum of acrocallosal syndrome

(2012) Audrey Putoux et al.   JOURNAL OF MEDICAL GENETICS

Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics

(2011) Claudia Dafinger et al.   JOURNAL OF CLINICAL INVESTIGATION

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

(2011) Audrey Putoux et al.   NATURE GENETICS

Metopic craniosynostosis due to mutations in GLI3: A novel association

(2010) Donna M. McDonald-McGinn et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The acrocallosal syndrome in sisters

(2010) Albert Schinzel et al.   CLINICAL GENETICS

Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations

(2010) Jennifer J. Johnston et al.   HUMAN MUTATION

Point Mutations in GLI3 Lead to Misregulation of its Subcellular Localization

(2009) Sybille Krauß et al.   PLoS One

New charts for ultrasound dating of pregnancy and assessment of fetal growth: longitudinal data from a population-based cohort study

(2008) B. O. Verburg et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY