Results 121 to 130 of about 1,239 (147)

Efficacy and safety of limb lengthening in achondroplasia: A systematic review and meta-analysis. [PDF]

Int Orthop
Hosny G, AbdElnaser A, Elashhab A, Saad H.   +3 more
europepmc   +1 more source

Langer mesomelic dysplasia as a rare manifestation of <i>SHOX</i> deficiency: a narrative review. [PDF]

Front Genet
Piwar H, Pawlasek J, Sielaff P, Sztachelska M, Ordak M.   +4 more
europepmc   +1 more source

Clinical burden and healthcare resource utilization associated with achondroplasia: a real-world observational, retrospective cohort study. [PDF]

Orphanet J Rare Dis
Abraham P, Miles G, Petruski-Ivleva N, Hawaldar K, Robinson C, Berger KI.   +5 more
europepmc   +1 more source

Thanatophoric Dysplasia With Concurrent Hydroureteronephrosis: A Rare Case Report From Rural Southern India. [PDF]

Cureus
V P, Gambhir P, V S.
europepmc   +1 more source

Domain-wide Mapping of Peer-reviewed Literature for Genetic Developmental Disorders using Machine Learning and Gene2Phenotype

Yates TM, Hunt SE, Lemos D, Pericherla SR, Uhalte EC, Ansari M, Thompson L, Doneva SE, Wright CF, Firth HV, Simpson TI.   +10 more
europepmc   +1 more source

An association of hypochondroplasia and immune deficiency

Journal of Pediatric Endocrinology and Metabolism, 2014
A 4-year-old boy with hypochondroplasia was admitted to our clinic with complaints of bronchopneumonia. He also had immune deficiency characterized by low CD3, CD4 T-lymphocyte subsets and a low level of serum immunoglobulin A (IgA).
Selim Kurtoğlu, H Halûk Akar
exaly   +2 more sources