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Public Health Genomics and Precision Health Knowledge Base (v9.0)
PHGKB
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Public Health Genomics Branch
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Precision Health Database|Search|Public Health Genomics and Precision Health Knowledge Base (PHGKB)
Rare Diseases
Last data update: May 03, 2024
. (Total: 63769 Documents since 2012)
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Records 1 - 14 (of 14 Records)
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A Study on the CLCN5 Gene in Iranian Patients: A Report of Novel and Recurrent Mutations.
Mollataheri Ali et al. Nephron 2023 1-8
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Hereditary Rickets: A Quick Guide for the Pediatrician.
AlSubaihin Abdulmajeed et al. Current pediatric reviews 2022
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Benefits of Newborn Screening for Vitamin D-Dependant Rickets Type 1A in a Founder Population.
Fortin Carol-Ann et al. Frontiers in endocrinology 2022 13887371
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Clinical practice guidelines for paediatric X-linked hypophosphataemia in the era of burosumab.
Sandy Jessica L et al. Journal of paediatrics and child health 2022
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Molecular Diagnoses of X-linked and Other Genetic Hypophosphatemias: Results from a Sponsored Genetic Testing Program.
Rush Eric T et al. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2021
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Clinical trials in skeletal dysplasia: a paradigm for treating rare diseases.
Sabir Ataf et al. British medical bulletin 2021
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Consensus Recommendations for the Diagnosis and Management of X-Linked Hypophosphatemia in Belgium.
Laurent Michaël R et al. Frontiers in endocrinology 2021 12641543
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The international X-linked hypophosphataemia (XLH) registry (NCT03193476): rationale for and description of an international, observational study.
Padidela Raja et al. Orphanet journal of rare diseases 2020 Jun 15(1) 172
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CLINGEN Actionability Report for Hypophosphatemic rickets, autosomal dominant-FGF23
ClinGen Actionability Working Group
CLINGEN Actionability Report for Cystinosis-CTNS
ClinGen Actionability Working Group
CLINGEN Actionability Report for Hypophosphatasia-ALPL
ClinGen Actionability Working Group
CLINGEN Actionability Report for Hypophosphatemic rickets, X-linked dominant-PHEX
ClinGen Actionability Working Group
Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia.
Haffner Dieter et al. Nature reviews. Nephrology 2019 May
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NTBC and Correction of Renal Dysfunction.
Maiorana Arianna et al. Advances in experimental medicine and biology 2017 95993-100
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Page last reviewed:
Feb 1, 2024
Page last updated:
May 03, 2024
Content source:
Public Health Genomics Branch in the Division of Blood Disorders and Public Health Genomics
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National Center on Birth Defects and Developmental Disabilities
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