Orphanet J Rare Dis
Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset end-stage renal disease.
Walczak-Sztulpa J, Posmyk R, Bukowska-Olech EM, Wawrocka A, Jamsheer A, Oud MM, Schmidts M, Arts HH, Latos-Bielenska A, Wasilewska A
Sensenbrenner syndrome, which is also known as cranioectodermal dysplasia (CED), is a rare, autosomal recessive ciliary chondrodysplasia characterized ...
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Source: PubMed
Environ. Res.
Multi-media biomarkers: Integrating information to improve lead exposure assessment.
Levin-Schwartz Y, Gennings C, Henn BC, Coull BA, Placidi D, Lucchini R, Smith DR, Wright RO
Exposure assessment traditionally relies on biomarkers that measure chemical concentrations in individual biological media (i.e., blood, urine, etc.). ...
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Source: PubMed
J Cutan Aesthet Surg
Improvement in the Quality of Life of a Patient of Ectodermal Dysplasia with Reconstructive Surgeries.
Deo K, Sharma YK, Shah B, Kothari P, Chavan D, Sitaniya S, Gupta A
Ectodermal dysplasias are a complex group of heterogenous, heritable disorders entailing two or more developmental abnormalities in ectodermal structu ...
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Source: PubMed
J Cutan Aesthet Surg
Radio-frequency Ablation for Matricectomy in the Management of Ingrown Toenail: A Pilot Study.
Singal A, Kaur I
Ingrown toenail is one of the most commonly encountered nail disorders that adversely affect the quality of life. The common surgical intervention inc ...
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Source: PubMed
Medicine (Baltimore)
Complications of hardware removal in pediatric upper limb surgery: A retrospective single-center study of 317 patients.
Scheider P, Ganger R, Farr S
Previous studies indicated that hardware removal may lead to increased morbidity and therefore, at least in adults, remains questionable for certain i ...
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Source: PubMed
