Results 71 to 80 of about 11,040 (189)
Schimmelpenning-Feuerstein-Mims syndrome with hypophosphatemic rickets
, 2003 The Schimmelpenning-Feuerstein-Mims syndrome (SFM syndrome) is a rare and variable multisystem defect consisting of congenital, extensive linear nevus sebaceus and associated abnormalities in different neuroectodermal organ systems.
Happle, R. +7 more
core +1 more source
Dental Problems in Hypophosphatemic Rickets, a Cross Sectional Study [PDF]
, 2013 Objective: Hypophosphatemic rickets is an uncommon metabolic bone disorder which affects all ages and both sexes. It is characterized by low concentration of serum phosphate levels, impairment of mineralization of bone matrix and teeth with variable ...
Rahmani, Parisa +3 more
core +2 more sources
A novel mosaic mutation in in a Korean patient with hypophosphatemic rickets [PDF]
Annals of Pediatric Endocrinology & Metabolism, 2018 X-linked hypophosphatemic rickets is caused by loss-of-function mutations in PHEX, which encodes a phosphate-regulating endopeptidase homolog. We report a 26-year-old man with X-linked hypophosphatemic rickets who showed decreased serum phosphate ...
Misun Yang +6 more
doaj +1 more source
X‐Linked Hypophosphatemia Caused by a New Partial Insertion of LINE‐1 in the PHEX Gene
Human Mutation, Volume 2026, Issue 1, 2026.X‐linked hypophosphatemia (XLH), primarily caused by mutations of the PHEX gene, is the most common cause of genetic rickets. Pediatric cases of XLH typically present with elevated levels of serum fibroblast growth factor 23 (FGF23), hypophosphatemia, rickets, and impaired growth.
Dongmei Li +6 more
wiley +1 more source
Novel Variant of SLC34A3 in a Compound Heterozygous Brazilian Girl with Hereditary Hypophosphatemic Rickets with Hypercalciuria [PDF]
Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare fibroblast growth factor-23-independent disorder caused by biallelic variants in the SLC34A3 gene.
Luciana Pinto Valadares +1 more
core +1 more source
Clinical Case Reports, Volume 13, Issue 12, December 2025.ABSTRACT Vitamin D‐dependent rickets type II (VDDR‐II) is a rare hereditary disorder caused by mutations in the vitamin D receptor gene, resulting in resistance to active vitamin D and impaired calcium absorption. We report a 2‐year and 6‐month‐old female toddler presenting with persistent rickets, delayed motor milestones, dental abnormalities, and ...
Abhisek Jha +8 more
wiley +1 more source
Hypophosphatemic rickets in children
, 2022 Hipofosfatemični rahitis je metabolička bolest kostiju koja najčešće nastaje zbog povećanog gubitka fosfata bubrezima. X-vezani dominantni hipofosfatemični rahitis je najzastupljeniji nasljedni oblik hipofosfatemičnog rahitisa, a uzrokovan je mutacijama ...
Ivanković, Katarina
core
The Journal of Clinical Pharmacology, Volume 65, Issue 12, Page 1889-1899, December 2025.Abstract In Japan, the percentage of approved drugs with pediatric indications increased to 30% in 2010‐2015, but no further increase was observed through 2020. The Ministry of Health, Labor, and Welfare in Japan presented draft future directions to promote pediatric drug development, where the modeling and simulation (M&S) approach was introduced as a
Akinori Nakashima +5 more
wiley +1 more source
Clinical Case Reports, Volume 13, Issue 8, August 2025.ABSTRACT Persistent hypophosphatemia must prompt thorough evaluation. This case highlights the severe, multisystem consequences of delayed recognition of oncogenic osteomalacia. Early biochemical assessment, imaging, and multidisciplinary involvement are critical to avoid misdiagnosis and prevent irreversible complications such as skeletal fragility ...
Ryan Michael Wilson, Lydia Sturridge
wiley +1 more source
Epidermal Nevi and Epidermal Naevus Syndromes
JEADV Clinical Practice, Volume 4, Issue 3, Page 669-680, August 2025.ABSTRACT Epidermal nevi (EN) arise from postzygotic variants in ectoderm‐derived cell lines, such as keratinocytes and cells forming adnexa. EN may be present alone without any associated abnormality or be part of a syndrome. In this review, we will discuss about the clinical and genetics of the main types of EN and related syndromes.
Gianluca Tadini +2 more
wiley +1 more source