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 …
Genetic analysis of three families with X-linked dominant hypophosphatemic rickets
X Lin, Y Zhu, J Luo, J Huang - Journal of Pediatric Endocrinology …, 2018 - degruyter.com
Background Hypophosphatemic rickets, including familial hypophosphatemic vitamin D-
resistant rickets, which commonly manifests in childhood, is generally hereditary. X-linked …
resistant rickets, which commonly manifests in childhood, is generally hereditary. X-linked …
Evaluating whole genome sequencing for rare diseases in newborn screening: evidence synthesis from a series of systematic reviews
Background Assessment of newborn screening using whole genome sequencing (WGS)
presents considerable challenges for policy advisors, not least given the logistics of …
presents considerable challenges for policy advisors, not least given the logistics of …
[PDF][PDF] Molecular and biochemical aspects of hypophosphatemic rickets: an updated review
FA Manjili, MHB Aliabad… - … Journal of Basic …, 2017 - pdfs.semanticscholar.org
Rickets is associated with aberrant mineralization in growth plates leading to the deformity of
bone structure. The two main types of rickets are phosphopenic and calcipenic rickets …
bone structure. The two main types of rickets are phosphopenic and calcipenic rickets …
A De Novo Mosaic PHEX Variant Causing Sporadic X-Linked Hypophosphatemic Rickets in a 2-Year-Old Girl
Pathogenic variants in the PHEX gene are causative of X-linked hypophosphatemic rickets
(XLH). We present a case of a 2-year-old girl with hypophosphatemic rickets with genu …
(XLH). We present a case of a 2-year-old girl with hypophosphatemic rickets with genu …
[PDF][PDF] Raquitismo hipofosfatémico ligado al cromosoma X
MA Condea, O Hernándezb - Semilleros Med Revista - umng.edu.co
Los raquitismos hipofosfatémicos son trastornos hereditarios, entre los cuales destaca el
raquitismo hipofosfatémico ligado al cromosoma X (RHLX), debido a su prevalencia, que …
raquitismo hipofosfatémico ligado al cromosoma X (RHLX), debido a su prevalencia, que …