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Quoted phrase not found in phrase index: "Neurodevelopmental disorder with poor growth and skeletal anomalies"
Page 1
De Novo Missense Variants in WDR37 Cause a Severe Multisystemic Syndrome.
Reis LM, Sorokina EA, Thompson S, Muheisen S, Velinov M, Zamora C, Aylsworth AS, Semina EV. Reis LM, et al. Am J Hum Genet. 2019 Aug 1;105(2):425-433. doi: 10.1016/j.ajhg.2019.06.015. Epub 2019 Jul 18. Am J Hum Genet. 2019. PMID: 31327510 Free PMC article.
Features of WDR37 syndrome include the following: ocular anomalies such as corneal opacity/Peters anomaly, coloboma, and microcornea; dysmorphic facial features; significant neurological impairment with structural brain defects and seizures; poor feeding; …
Features of WDR37 syndrome include the following: ocular anomalies such as corneal opacity/Peters anomaly, coloboma, and micro …
Further expanding the clinical phenotype in Bainbridge-Ropers syndrome and dissecting genotype-phenotype correlation in the ASXL3 mutational cluster regions.
Yu KP, Luk HM, Fung JLF, Chung BH, Lo IF. Yu KP, et al. Eur J Med Genet. 2021 Jan;64(1):104107. doi: 10.1016/j.ejmg.2020.104107. Epub 2020 Nov 23. Eur J Med Genet. 2021. PMID: 33242595
Bainbridge-Ropers syndrome (BRPS) [OMIM#615485] is a neurodevelopmental disorder, characterized by delayed psychomotor development with generalized hypotonia, intellectual disability with poor or absent speech, feeding difficulties, growth failu …
Bainbridge-Ropers syndrome (BRPS) [OMIM#615485] is a neurodevelopmental disorder, characterized by delayed psychomotor deve …
Refinement of the 12q14 microdeletion syndrome: primordial dwarfism and developmental delay with or without osteopoikilosis.
Mari F, Hermanns P, Giovannucci-Uzielli ML, Galluzzi F, Scott D, Lee B, Renieri A, Unger S, Zabel B, Superti-Furga A. Mari F, et al. Eur J Hum Genet. 2009 Sep;17(9):1141-7. doi: 10.1038/ejhg.2009.27. Epub 2009 Mar 11. Eur J Hum Genet. 2009. PMID: 19277063 Free PMC article.
In their studies on the molecular basis of osteopoikilosis, Menten et al have identified three individuals with microdeletions on chromosome 12q14.4, which removed several genes including LEMD3, the osteopoikilosis gene. In addition to osteopoikilosis, affected individuals had …
In their studies on the molecular basis of osteopoikilosis, Menten et al have identified three individuals with microdeletions on chromosome …