Results 121 to 130 of about 1,547 (171)

Similarities and Differences of Multiple Epiphyseal Dysplasias: Genetic Features and Natural Course in 22 Patients. [PDF]

Genes (Basel)
Taner HE, Uludağ Alkaya D, Kalyoncu Uçar A, Şeker A, Centel T, Yıldırım T, Güneş N, Tüysüz B.   +7 more
europepmc   +1 more source

Expanding the Genotypic and Phenotypic Spectrum of SPENCDI: A Novel <i>ACP5</i> Variant and Literature Review. [PDF]

Genes (Basel)
Li W, Li J, Jiang D, Fu X, Li P.
europepmc   +1 more source

From genotype to phenotype: the impact of early management in pycnodysostosis. [PDF]

Endocrinol Diabetes Metab Case Rep
Von Zuben PRGDS, de Sousa SZ, Figueiredo CC, de Araújo Evangelista NM, Fernandes VT, Salmona P, Colares Neto GP.   +6 more
europepmc   +1 more source

Long-term follow-up of metatropic dysplasia caused by novel mutations in the TRPV4 gene: Case report and literature review. [PDF]

Medicine (Baltimore)
Liu Y, Dong Y, Xu J, Xia B, Hu W, Li X, Wang F, Zhao Y, Feng G.   +8 more
europepmc   +1 more source

Genetic Heterogeneity Underlying Familial Short Stature. [PDF]

Diagnostics (Basel)
Comel M, Barat-Houari M, Alkar F, Amouroux C, Prodhomme O, Ruiz N, Rondeau S, Wells CF, Pers YM, Geneviève D, Willems M.   +10 more
europepmc   +1 more source

Evaluation of prenatal‐onset osteochondrodysplasias by ultrasonography: A persistent challenge 18 years later

, 2009
Luis F. Escobar, David D. Weaver
core   +1 more source

Concurrent mutations in RNU4ATAC, PLEC, and CD96 in a child with severe short stature and skeletal dysplasia: a case report. [PDF]

Ital J Pediatr
Wang H, Wang J, Chen D.
europepmc   +1 more source

A Bumpy Ride Through a Turbulent Airway: But Not Always-A Case Report of Tracheobronchopathia Osteochondroplastica. [PDF]

J Investig Med High Impact Case Rep
Gaddam M, Tangutoori S, Gullapalli D, Ganti S, Hakim M, Matela A.   +5 more
europepmc   +1 more source

Unexpectedly high levels of normally spliced transcripts from the pathogenic SLC10A7 alleles in a recessive form of skeletal dysplasia. [PDF]

HGG Adv
Zhao XC, Zhang ZC, Ye WL, Ye YY, Wang LT, Zheng XQ, Chang YB, Chen C.   +7 more
europepmc   +1 more source