Associated Papers
New insights into the phenotypic spectrum of 14q22q23 deletions: a case report and literature review.
Pichiecchio A et al.
Bmc Medical Genomics, 2018
Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era.
Fang Q et al.
Endocrine Reviews, 2016
Agnathia-otocephaly complex and asymmetric velopharyngeal insufficiency due to an in-frame duplication in OTX2.
Sergouniotis PI et al.
Journal of Human Genetics, 2015
Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia.
Chassaing N et al.
Clinical Genetics, 2014
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