X-linked hypophosphatemia in 4 generations due to an exon 13–15 duplication in PHEX, in the absence of the c.* 231A> G variant
JS Barros, SI Sanchez, K Cabral, AH Beggs… - Bone, 2023 - Elsevier
X-linked hypophosphatemia is the most common cause of inherited rickets, due to
inactivating variants of PHEX. More than 800 variants have been described to date and one …
inactivating variants of PHEX. More than 800 variants have been described to date and one …
Unusually severe hypophosphatemic rickets caused by a novel and complex re‐arrangement of the PHEX gene
T Pekkarinen, B Lorenz‐Depiereux… - American Journal of …, 2014 - Wiley Online Library
X‐linked hypophosphatemia (XLH) is caused by mutations in PHEX. Several other genetic
forms of hypophosphatemia have also been described. These disorders share variable …
forms of hypophosphatemia have also been described. These disorders share variable …
PHEX analysis in 118 pedigrees reveals new genetic clues in hypophosphatemic rickets
C Gaucher, O Walrant-Debray, TM Nguyen, L Esterle… - Human genetics, 2009 - Springer
Familial hypophosphatemic rickets is a rare disease, which is mostly transmitted as an X-
linked dominant trait, and mutations on the phosphate regulating gene with homologies to …
linked dominant trait, and mutations on the phosphate regulating gene with homologies to …
Novel and de novo PHEX mutations in patients with hypophosphatemic rickets
E Durmaz, M Zou, RA Al-Rijjal, EY Baitei, S Hammami… - Bone, 2013 - Elsevier
X-linked hypophosphatemic rickets (XLH) is the most common inherited rickets. XLH is
caused by inactivating mutations in the PHEX gene and is transmitted as an X-linked …
caused by inactivating mutations in the PHEX gene and is transmitted as an X-linked …
Three novel PHEX gene mutations in four Chinese families with X-linked dominant hypophosphatemic rickets
Q Kang, J Xu, Z Zhang, J He, L Lu, W Fu… - … and Biophysical Research …, 2012 - Elsevier
BACKGROUND: X-linked hypophosphatemia (XLH), the most common form of inherited
rickets, is a dominant disorder that is characterized by renal phosphate wasting with …
rickets, is a dominant disorder that is characterized by renal phosphate wasting with …
Functional analysis of 22 splice-site mutations in the PHEX, the causative gene in X-linked dominant hypophosphatemic rickets
HA BinEssa, M Zou, AF Al-Enezi, B Alomrani… - Bone, 2019 - Elsevier
Context X-linked hypophosphatemic rickets (XLH) is caused by inactivating mutations in the
PHEX gene and is the most common form of hereditary rickets. The splice-site mutations …
PHEX gene and is the most common form of hereditary rickets. The splice-site mutations …
PHEX 3′‐UTR c.*231A>G Near The Polyadenylation Signal Is a Relatively Common, Mild, American Mutation That Masquerades as Sporadic or X‐Linked …
S Mumm, M Huskey, A Cajic, V Wollberg… - Journal of Bone and …, 2015 - academic.oup.com
Heritable forms of hypophosphatemic rickets (HR) include X‐linked dominant (XLH),
autosomal recessive, and autosomal dominant HR (from deactivating mutations in PHEX …
autosomal recessive, and autosomal dominant HR (from deactivating mutations in PHEX …
Mutational analysis and genotype-phenotype correlation of the PHEX gene in X-linked hypophosphatemic rickets
IA Holm, AE Nelson, BG Robinson… - The Journal of …, 2001 - academic.oup.com
PHEX is the gene defective in X-linked hypophosphatemic rickets. In this study, analysis of
PHEX revealed mutations in 22 hypophosphatemic rickets patients, including 16 of 28 …
PHEX revealed mutations in 22 hypophosphatemic rickets patients, including 16 of 28 …
Identification of a novel PHEX mutation in a Chinese family with X-linked hypophosphatemic rickets using exome sequencing
L Yuan, S Wu, H Xu, J Xiao, Z Yang, H Xia, A Liu… - Biological …, 2015 - degruyter.com
Familial hypophosphatemic rickets (HR), the most common inherited form of rickets, is a
group of inherited renal phosphate wasting disorders characterized by growth retardation …
group of inherited renal phosphate wasting disorders characterized by growth retardation …
Phenotypes of a family with XLH with a novel PHEX mutation
A Yamamoto, T Nakamura, Y Ohata, T Kubota… - Human genome …, 2020 - nature.com
X-linked hypophosphatemia (XLH) is the most common form of heritable hypophosphatemic
rickets. We encountered a 4-year-old boy with a novel variant in the phosphate-regulating …
rickets. We encountered a 4-year-old boy with a novel variant in the phosphate-regulating …