Co-occurrence of mutations in KIF7 and KIAA0556 in Joubert syndrome with ocular coloboma, pituitary malformation and growth hormone deficiency: a case report and literature review

Overlap of polymicrogyria, hydrocephalus, and Joubert syndrome in a family with novel truncating mutations in ADGRG1/GPR56 and KIAA0556

(2019) Edmund S. Cauley et al.   NEUROGENETICS

Pathogenic variants of DYNC2H1, KIAA0556, and PTPN11 associated with hypothalamic hamartoma

(2019) Atsushi Fujita et al.   NEUROLOGY

Digenic inheritance and genetic modifiers

(2018) C. Deltas   CLINICAL GENETICS

Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome

(2018) Christiane K. Bauer et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Understanding mutational effects in digenic diseases

(2017) Andrea Gazzo et al.   NUCLEIC ACIDS RESEARCH

Biallelic Mutations in TBCD , Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy

(2016) Elisabetta Flex et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Identification of a homozygous nonsense mutation in KIAA0556 in a consanguineous family displaying Joubert syndrome

(2016) Susanne Roosing et al.   HUMAN GENETICS

Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies

(2015) Marcello Niceta et al.   AMERICAN JOURNAL OF HUMAN GENETICS

NovelKIF7missense substitutions in two patients presenting with multiple malformations and features of acrocallosal syndrome

(2015) Sanjin Tunovic et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity

(2015) R Bachmann-Gagescu et al.   JOURNAL OF MEDICAL GENETICS

Kif7 keeps cilia tips in shape

(2014) Lotte B. Pedersen et al.   NATURE CELL BIOLOGY

The PPFIA1-PP2A protein complex promotes trafficking of Kif7 to the ciliary tip and Hedgehog signaling

(2014) Y. C. Liu et al.   Science Signaling

Digenic inheritance in medical genetics

(2013) Alejandro A Schäffer   JOURNAL OF MEDICAL GENETICS

CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium

(2012) Ji Eun Lee et al.   NATURE GENETICS

A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance

(2012) Bassam R Ali et al.   Orphanet Journal of Rare Diseases

Co-occurrence of distinct ciliopathy diseases in single families suggests genetic modifiers

(2011) Maha S. Zaki et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

The primary cilium as a cellular signaling center: lessons from disease

(2009) Madeline A Lancaster et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Genotypes and phenotypes of Joubert syndrome and related disorders

(2007) Enza Maria Valente et al.   European Journal of Medical Genetics