Anterior segment anomalies of the eye, growth retardation associated with hypoplastic pituitary gland and endocrine abnormalities: Jung syndrome or a new syndrome?
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference17 articles.
1. Anterior segment anomalies of the eye associated with multiple skeletal abnormalities and early lethality: confirmation of an autosomal recessive syndrome;Al-Gazali;Clin Dysmorphol,1999
2. Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways;Bakarnia;Am J Hum Genet,2008
3. Peters anomaly associated with partial deletion of the long arm of chromosome 11;Bateman;Am J Ophthalmol,1984
4. Deletion 14q (q22q23) associated with anophthalmia, absent pituitary, and other abnormalities;Bennett;J Med Genet,1991
5. Primary mesodermal dysgenesis of the cornea (Peters anomaly) in two brothers;Boel;Hum Genet,1979
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1. Eye Signs in Pituitary Disorders;Neurology India;2019
2. Functional characterization of zebrafish orthologs of the human Beta 3-Glucosyltransferase B3GLCT gene mutated in Peters Plus Syndrome;PLOS ONE;2017-09-19
3. NovelB3GALTLmutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes;Clinical Genetics;2013-09-17
4. Genetics of anterior segment dysgenesis disorders;Current Opinion in Ophthalmology;2011-09
5. Genetic Disorders in the United Arab Emirates;Genetic Disorders Among Arab Populations;2010
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