Results 71 to 80 of about 1,602 (170)

Osteochondroplasias (Osteochondrodysplasias)

, 2004

core   +1 more source

From wheelchair to walking: first reported case in Saudi Arabia of transformative orthopedic surgery in a patient with spondyloepimetaphyseal dysplasia with joint laxity type 3 due to EXOC6B mutation-a case report. [PDF]

J Med Case Rep
Alqawlaq AK, Almoshawar HH, Saddiq BB, ElZayyat E, Felemban F.   +4 more
europepmc   +1 more source

Osteochondrodysplasia [PDF]

, 2020
openaire   +1 more source

Ultrasonographic hip morphology in mucopolysaccharidosis type I Hurler after hematopoietic stem cell gene therapy. [PDF]

J Child Orthop
De Pellegrin M, Filisetti C, Cossutta M, Colombo M, Consiglieri G, Tucci F, Aiuti A, Bernardo ME.   +7 more
europepmc   +1 more source

Am J Hum Genet

, 2003
Although disorders of the skeleton are individually rare, they are of clinical relevance because of their overall frequency. Many attempts have been made in the past to identify disease groups in order to facilitate diagnosis and to draw conclusions ...
Kornak, U., Mundlos, S.
core  

Characterization of individuals with skeletal dysplasia at a referral center in Brazil. [PDF]

J Community Genet
Meira JGC, Migliavacca MP, Acosta AX.
europepmc   +1 more source

Closely Monitored Successful Full-Term Delivery in a Woman With Spondyloepiphyseal Dysplasia Congenita: A Case Report and Literature Review. [PDF]

J Obstet Gynaecol Res
Ueki M, Ono M, Kamiya M, Yokokawa Y, Tanaka Y, Asaka R, Fuseya C, Kikuchi N, Shiozawa T, Miyamoto T.   +9 more
europepmc   +1 more source

Prenatal Phenotypic Features of Five Fetal Cases With RNU4ATAC-Associated Microcephalic Osteodysplastic Primordial Dwarfism Type I. [PDF]

Prenat Diagn
Liebmann A, Richter T, Krstić N, Hoopmann M, Kagan KO, Menig-Benzig LS, Olivieri S, Riess O, Dufke A.   +8 more
europepmc   +1 more source

Cartilage-hair hypoplasia in a patient with compound heterozygous variants in the RMRP gene: A case report. [PDF]

Medicine (Baltimore)
Lin S, Chen Q, Qi Y, Sun X, Wang W, Jiang K, Zhou X.   +6 more
europepmc   +1 more source

X-linked spondyloepiphyseal dysplasia tarda misdiagnosed as growth hormone deficiency: identification of a novel intronic TRAPPC2 variant by whole-genome sequencing. [PDF]

BMC Pediatr
Jo HY, Kim YM, Kim H, Cho YJ, Cheon CK.
europepmc   +1 more source