Results 71 to 80 of about 1,505 (162)

Case Report: A case of x-linked hypophosphatemic rickets complicated with polyostotic fibrous dysplasia caused by PHEX gene mutation and literature review. [PDF]

Front Endocrinol (Lausanne)
Huang S, Lin A, Zhang N, He W, Huo Y, Wang C.   +5 more
europepmc   +1 more source

Six cases of <i>ENPP1</i> pathogenic variants causing autosomal recessive hypophosphatemic rickets type 2 and generalized arterial calcification of infancy. [PDF]

JBMR Plus
Collins L, Sandy J, Ly S, Lomax KE, Black S, McKenzie F, Hayes E, Poulton C, Jefferies C, Hunter W, Simm P, Rodda C, Biggin A, Munns C, Siafarikas A.   +14 more
europepmc   +1 more source

A case and review of fibroblast growth factor-23-mediated hypophosphatemic osteomalacia in the absence of pathogenic <i>PHEX</i> variants. [PDF]

JBMR Plus
Park YA, Gong JY, Chiang C, Trainer AH, Yates CJ.   +4 more
europepmc   +1 more source

Variants of unknown significance are common in brushite stone formers undergoing genetic testing for nephrolithiasis. [PDF]

Urolithiasis
Paneque T, Berst K, Sambharia M, Swee M, Kimble M, Mansilla MA, Freese M, Thomas CP, Tracy CR, Steinberg RL.   +9 more
europepmc   +1 more source

Early Dental Manifestations and Multidisciplinary Management of X-Linked Hypophosphatemic Rickets in a Pediatric Patient: A Case Report. [PDF]

Children (Basel)
Mitova N, Petkova-Ninova V, Popova Y.
europepmc   +1 more source

Familial hypophosphatemic rickets

, 2012
openaire   +1 more source

A Mosaic PHEX Variant in Hypophosphatemic Rickets: Distinguishing Postzygotic Mutation from Sex Chromosome Aneuploidy. [PDF]

Calcif Tissue Int
Lim WT, Nenke M, Rawlings L, Wells A, Vakulin C, Waters W, De Sousa S.   +6 more
europepmc   +1 more source

3D-printed model combined with the Ilizarov technique in the treatment of genu varum in children with hypophosphatemic rickets. [PDF]

J Orthop Surg Res
Chen S, Gao B, Shi Q.
europepmc   +1 more source

Molecular Basis of Rare Inherited Tubulopathies of the Kidney: A Primer for Clinicians. [PDF]

Int J Mol Sci
Vecino-Pérez M, García-Murias M, Carrera N, Pedrosa P, García-González MÁ.   +4 more
europepmc   +1 more source

Concordant X-linked hypophosphatemic rickets in monozygotic twins: diagnostic challenges and a novel genetic insight. [PDF]

Endocrinol Diabetes Metab Case Rep
Ribeiro S, Moreno T, Varela A, Soares G, Queirós J.   +4 more
europepmc   +1 more source