Results 131 to 140 of about 1,628 (156)
GMNN and DLL1 mutation-related spondylocarpotarsal synostosis: a case report. [PDF]
Lee J, Ryu B, Kim Y, Lee E.
europepmc +1 more source
General Anesthetic Management of a Patient With Spondyloepiphyseal Dysplasia Congenita Undergoing Palatoplasty Revision. [PDF]
Hattori H +9 more
europepmc +1 more source
Hypoadrenocorticism-like syndrome in a cat with Tritrichomonas foetus infection: a case report. [PDF]
Crisonà M +4 more
europepmc +1 more source
TYRA-300, an FGFR3-selective inhibitor, promotes bone growth in two FGFR3-driven models of chondrodysplasia. [PDF]
Starrett JH +16 more
europepmc +1 more source
The hypertrichosis and osteochondrodysplasia syndrome is a rare entity with clinical findings including macrosomia at birth cardiomegaly. Autosomal recessive inheritance is presumed based on the report of two affected sibs born to healthy parents.
Luis E Figuera, Z Nazara, D García-Cruz
exaly +2 more sources
Blomstrand lethal osteochondrodysplasia
: We present the clinical, roentgenographic, and histologic abnormalities in a stillborn infant with Blomstrand osteochondrodysplasia, Parental consanguinity and multiplex occurrence in the patients' sibship confirm the hypothesis of autosomal recessive ...
Jules G Leroy, Hendrik Roels
exaly +2 more sources

