New insights into genotype–phenotype correlation for GLI3 mutations

A de novoGLI3mutation in a patient with acrocallosal syndrome

(2013) Leonie Speksnijder et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

NovelKIF7mutations extend the phenotypic spectrum of acrocallosal syndrome

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

Delineation and Diagnostic Criteria of Oral-Facial-Digital Syndrome Type VI

(2012) Andrea Poretti et al.   Orphanet Journal of Rare Diseases

Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3

(2011) Jane A Hurst et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Phenotypic spectrum of fetal Smith–Lemli–Opitz syndrome

(2011) Chloé Quélin et al.   European Journal of Medical Genetics

GLI3 is rarely implicated in OFD syndromes with midline abnormalities

(2011) M. Avila et al.   HUMAN MUTATION

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

(2011) Audrey Putoux et al.   NATURE GENETICS

Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations

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

Genetic screening of 202 individuals with congenital limb malformations and requiring reconstructive surgery

(2009) D Furniss et al.   JOURNAL OF MEDICAL GENETICS

Point Mutations in GLI3 Lead to Misregulation of its Subcellular Localization

(2009) Sybille Krauß et al.   PLoS One

The Greig cephalopolysyndactyly syndrome

(2008) Leslie G Biesecker   Orphanet Journal of Rare Diseases