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Total 17126 results found since Jan 2013.

Prenatal diagnosis of lanosterol synthase deficiency: Fetal ultrasound findings as a window on family genetics
Eur J Med Genet. 2023 Aug 31:104825. doi: 10.1016/j.ejmg.2023.104825. Online ahead of print.ABSTRACTCholesterol is essential in the brain from the earliest stages of embryonic development. Disruption of cholesterol synthesis pathways that leads to cholesterol deficiency underlies a few syndromes, including desmosterolosis and Smith-Lemli-Opitz syndrome. In both syndromes, brain anomalies can occur. The LSS gene encodes lanosterol synthase (LSS), an important enzyme in the cholesterol biosynthesis pathway. Biallelic pathogenic variants in this gene cause alopecia-intellectual disability type 4 syndrome (APMR4, MIM 618840), ...
Source: European Journal of Medical Genetics - September 2, 2023 Category: Genetics & Stem Cells Authors: Sigal Matza Porges Hagar Mor-Shaked Avraham Shaag Shay Porat Hagit Daum Source Type: research

Severe KIDAR syndrome caused by deletion in the AP1B1 gene: Report of a teenage patient and systematic review of the literature
We describe a 14-year-old male born to non-consanguineous parents with unremarkable family history. The patient had fetal ascites, neonatal pancreatic insufficiency with consequent failure to thrive, feeding difficulties, recurrent infections and sepsis. The skin examination was remarkable for an ichthyosis with conspicuous palmoplantar keratoderma, sparse and brittle hair with alopecia on the vertex and slight bilateral ectropion. He had short stature, thin build, frontal bossing, small teeth and prominent abdomen. Additional features were congenital profound bilateral sensorineural deafness, photosensitivity and photopho...
Source: European Journal of Medical Genetics - September 1, 2023 Category: Genetics & Stem Cells Authors: Alice P Vasconcelos Ana Nogueira Pedro Matos Joel Pinto Maria Jo ão Pinho Susana Fernandes Sofia Doria Carla Pinto Moura Source Type: research

Study To Evaluate The Efficacy And Safety Profile of ECOHAIR in Chemo-induced Alopecia.
Condition:   Chemotherapy-induced Alopecia Intervention:   Other: hair lotion Sponsor:   Instituto de Oncología Ángel H. Roffo Recruiting
Source: ClinicalTrials.gov - August 31, 2023 Category: Research Source Type: clinical trials