Ocular coloboma: a reassessment in the age of molecular neuroscience

CY Gregory-Evans, MJ Williams, S Halford… - Journal of medical …, 2004 - jmg.bmj.com
Congenital colobomata of the eye are important causes of childhood visual impairment and
blindness. Ocular coloboma can be seen in isolation and in an impressive number of …

Mowat-Wilson syndrome

L Garavelli, PC Mainardi - Orphanet journal of rare diseases, 2007 - Springer
Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized
by a distinct facial phenotype (high forehead, frontal bossing, large eyebrows, medially …

Uveal coloboma: clinical and basic science update

L Chang, D Blain, S Bertuzzi… - Current opinion in …, 2006 - journals.lww.com
Optic fissure closure requires precise orchestration in timing and apposition of two poles of
the optic cup. The relative roles of genetics and environment on this process remain elusive …

ZFHX1B mutations in patients with Mowat‐Wilson syndrome

F Dastot‐Le Moal, M Wilson, D Mowat, N Collot… - Human …, 2007 - Wiley Online Library
Mowat‐Wilson syndrome (MWS) is a recently delineated mental retardation (MR)‐multiple
congenital anomaly syndrome, characterized by typical facies, severe MR, epilepsy, and …

Identification of myopia-associated WNT7B polymorphisms provides insights into the mechanism underlying the development of myopia

M Miyake, K Yamashiro, Y Tabara, K Suda… - Nature …, 2015 - nature.com
Myopia can cause severe visual impairment. Here, we report a two-stage genome-wide
association study for three myopia-related traits in 9,804 Japanese individuals, which was …

Genes and pathways in optic fissure closure

A Patel, JC Sowden - Seminars in Cell & Developmental Biology, 2019 - Elsevier
Embryonic development of the vertebrate eye begins with the formation of an optic vesicle
which folds inwards to form a double-layered optic cup with a fissure on the ventral surface …

Clinical and mutational spectrum of Mowat–Wilson syndrome

C Zweier, CT Thiel, A Dufke, YJ Crow… - European journal of …, 2005 - Elsevier
Mowat–Wilson Syndrome is a recently delineated mental retardation syndrome usually
associated with multiple malformations and a recognizable facial phenotype caused by …

Mowat–Wilson syndrome: facial phenotype changing with age: study of 19 Italian patients and review of the literature

L Garavelli, M Zollino, PC Mainardi… - American Journal of …, 2009 - Wiley Online Library
In 1998, Mowat et al. described six patients with a new syndrome characterized by mental
retardation, a distinct facial appearance, microcephaly and Hirschsprung disease (HSCR) …

The contribution of associated congenital anomalies in understanding Hirschsprung's disease

SW Moore - Pediatric surgery international, 2006 - Springer
Hirschsprung's disease (HSCR) is a complex congenital disorder which, from a molecular
perspective, appears to result due to disruption of normal signalling during development of …

Genome-wide association study identifies ZFHX1B as a susceptibility locus for severe myopia

CC Khor, M Miyake, LJ Chen, Y Shi… - Human molecular …, 2013 - academic.oup.com
Severe myopia (defined as spherical equivalent<− 6.0 D) is a predominant problem in Asian
countries, resulting in substantial morbidity. We performed a meta-analysis of four genome …