Digenic Inheritance of PROKR2 and WDR11 Mutations in Pituitary Stalk Interruption Syndrome
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Title
Digenic Inheritance of PROKR2 and WDR11 Mutations in Pituitary Stalk Interruption Syndrome
Authors
Keywords
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Journal
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
Volume 102, Issue 7, Pages 2501-2507
Publisher
The Endocrine Society
Online
2017-04-28
DOI
10.1210/jc.2017-00332
References
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Note: Only part of the references are listed.- Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era
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- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
- (2015) Sue Richards et al. GENETICS IN MEDICINE
- DIDA: A curated and annotated digenic diseases database
- (2015) Andrea M. Gazzo et al. NUCLEIC ACIDS RESEARCH
- FGFR1 and PROKR2 rare variants found in patients with combined pituitary hormone deficiencies
- (2015) F. A. Correa et al. Endocrine Connections
- Digenic inheritance in medical genetics
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- PROKR2 Variants in Multiple Hypopituitarism with Pituitary Stalk Interruption
- (2012) Rachel Reynaud et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Evidence of the Importance of the First Intracellular Loop of Prokineticin Receptor 2 in Receptor Function
- (2012) Ana Paula Abreu et al. MOLECULAR ENDOCRINOLOGY
- Pituitary stalk interruption syndrome in 83 patients: novel HESX1 mutation and severe hormonal prognosis in malformative forms
- (2011) R Reynaud et al. EUROPEAN JOURNAL OF ENDOCRINOLOGY
- Pituitary Stalk Dysgenesis-Induced Hypopituitarism in Adult Patients: Prevalence, Evolution of Hormone Dysfunction and Genetic Analysis
- (2011) Eva Fernandez-Rodriguez et al. NEUROENDOCRINOLOGY
- WDR11, a WD Protein that Interacts with Transcription Factor EMX1, Is Mutated in Idiopathic Hypogonadotropic Hypogonadism and Kallmann Syndrome
- (2010) Hyung-Goo Kim et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Oligogenic basis of isolated gonadotropin-releasing hormone deficiency
- (2010) G. P. Sykiotis et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- A Comparative Phenotypic Study of Kallmann Syndrome Patients Carrying Monoallelic and Biallelic Mutations in the Prokineticin 2 or Prokineticin Receptor 2 Genes
- (2009) Julie Sarfati et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- PROKR2 missense mutations associated with Kallmann syndrome impair receptor signalling activity
- (2008) Carine Monnier et al. HUMAN MOLECULAR GENETICS
- Mutations inProkineticin 2andProkineticin receptor 2genes in Human Gonadotrophin-Releasing Hormone Deficiency: Molecular Genetics and Clinical Spectrum
- (2008) Lindsay W. Cole et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
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