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Differential diagnosis of perinatal hypophosphatasia: radiologic perspectives.
Offiah AC, Vockley J, Munns CF, Murotsuki J. Offiah AC, et al. Pediatr Radiol. 2019 Jan;49(1):3-22. doi: 10.1007/s00247-018-4239-0. Epub 2018 Oct 3. Pediatr Radiol. 2019. PMID: 30284005 Free PMC article. Review.
., osteogenesis imperfecta, campomelic dysplasia, achondrogenesis subtypes, hypochondrogenesis, cleidocranial dysplasia). Perinatal HPP is associated with a broad spectrum of imaging findings that are characteristic of but do not occur in all cases of HPP and are not uniqu …
., osteogenesis imperfecta, campomelic dysplasia, achondrogenesis subtypes, hypochondrogenesis, cleidocranial dysplasia). Perinatal HPP is a …
Defective airway intraflagellar transport underlies a combined motile and primary ciliopathy syndrome caused by IFT74 mutations.
Fassad MR, Rumman N, Junger K, Patel MP, Thompson J, Goggin P, Ueffing M, Beyer T, Boldt K, Lucas JS, Mitchison HM. Fassad MR, et al. Hum Mol Genet. 2023 Oct 17;32(21):3090-3104. doi: 10.1093/hmg/ddad132. Hum Mol Genet. 2023. PMID: 37555648 Free PMC article.
Mutations affecting motile cilia usually cause the chronic muco-obstructive sinopulmonary disease primary ciliary dyskinesia (PCD) and are associated with laterality defects, while a broad spectrum of early developmental as well as degenerative syndromes arise from mutatio …
Mutations affecting motile cilia usually cause the chronic muco-obstructive sinopulmonary disease primary ciliary dyskinesia (PCD) and are a …