Heterozygous Orthodenticle Homeobox 2 Mutations Are Associated with Variable Pituitary Phenotype

Sumito Dateki, Kitaro Kosaka, Kosei Hasegawa, +12

The Journal of Clinical Endocrinology & Metabolism

OTX2 Mutation in a Patient with Anophthalmia, Short Stature, and Partial Growth Hormone Deficiency: Functional Studies Using the IRBP, HESX1, and POU1F1 Promoters

Sumito Dateki, Maki Fukami, Naoko Sato, +3

The Journal of Clinical Endocrinology & Metabolism

Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients

Futoshi Sekiguchi, Yoshinori Tsurusaki, Nobuhiko Okamoto, +76

Journal of Human Genetics

Mendelian DisorderGenetic DisorderGeneticsInherited Metabolic DiseaseGenetic Epidemiology +5

SLC25A13 Gene Analysis in Citrin Deficiency: Sixteen Novel Mutations in East Asian Patients, and the Mutation Distribution in a Large Pediatric Cohort in China

Yuan‐Zong Song, Zhan‐Hui Zhang, Wei‐Xia Lin, +14

PLoS ONE

Next generation sequencing-based mutation screening of 86 patients with idiopathic short stature

Atsushi Hattori, Yûkô Fukui, Akie Nakamura, +18

Endocrine Journal

SequencingGrowth HormoneMendelian DisorderGenetic DisorderMedicine +12

Mutation and Gene Copy Number Analyses of Six Pituitary Transcription Factor Genes in 71 Patients with Combined Pituitary Hormone Deficiency: Identification of a Single Patient with<i>LHX4</i>Deletion

Sumito Dateki, Maki Fukami, Ayumi Uematsu, +9

The Journal of Clinical Endocrinology & Metabolism

&lt;i&gt;ACAN&lt;/i&gt; mutations as a cause of familial short stature

Sumito Dateki

Clinical Pediatric Endocrinology

A novel loss-of-function mutation in OTX2 in a patient with anophthalmia and isolated growth hormone deficiency

Liat Ashkenazi‐Hoffnung, Yael Lebenthal, Alexander W. Wyatt, +6

Human Genetics

Novel Loss-of-function MutationDevelopmental BiologyOcular DiseaseOphthalmologyHuman Growth +3

A hot-spot mutation in CDC42 (p.Tyr64Cys) and novel phenotypes in the third patient with Takenouchi-Kosaki syndrome

Midori Motokawa, Satoshi Watanabe, Akiko Nakatomi, +9

Journal of Human Genetics

Mendelian DisorderGenetic DisorderHot-spot MutationGeneticsPathogenesis +8

Identification of a novel heterozygous mutation of the Aggrecan gene in a family with idiopathic short stature and multiple intervertebral disc herniation

Sumito Dateki, Akiko Nakatomi, Satoshi Watanabe, +5

Journal of Human Genetics

Developmental AnomalyMendelian DisorderGenetic DisorderMedicineGenetics +9