Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessiveWNT1mutations

Mutations in patients with osteogenesis imperfecta from consanguineous Indian families

(2015) Joshi Stephen et al.   European Journal of Medical Genetics

The swaying mouse as a model of osteogenesis imperfecta caused by WNT1 mutations

(2014) Kyu Sang Joeng et al.   HUMAN MOLECULAR GENETICS

WNT1 Mutations in Families Affected by Moderately Severe and Progressive Recessive Osteogenesis Imperfecta

(2013) Shawna M. Pyott et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in WNT1 Cause Different Forms of Bone Fragility

(2013) Katharina Keupp et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in WNT1 are a cause of osteogenesis imperfecta

(2013) Somayyeh Fahiminiya et al.   JOURNAL OF MEDICAL GENETICS

WNT1 mutation with recessive osteogenesis imperfecta and profound neurological phenotype

(2013) Eissa Faqeih et al.   JOURNAL OF MEDICAL GENETICS

WNT1 Mutations in Early-Onset Osteoporosis and Osteogenesis Imperfecta

(2013) Christine M. Laine et al.   NEW ENGLAND JOURNAL OF MEDICINE

A novel PTF1A mutation in a patient with severe pancreatic and cerebellar involvement

(2011) M Al-Shammari et al.   CLINICAL GENETICS

Wnt1 expression temporally allocates upper rhombic lip progenitors and defines their terminal cell fate in the cerebellum

(2011) Nellwyn Hagan et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

Wnt Signaling in Development, Disease and Translational Medicine

(2008) Gary Coombs et al.   CURRENT DRUG TARGETS

Cerebellar Cleft: A Form of Prenatal Cerebellar Disruption

(2008) A. Poretti et al.   NEUROPEDIATRICS