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Quoted phrase not found in phrase index: "Chromosome 16q22 deletion syndrome"
Page 1
A 16q22.2-q23.1 deletion identified in a male infant with West syndrome.
Mori T, Goji A, Toda Y, Ito H, Mori K, Kohmoto T, Imoto I, Kagami S. Mori T, et al. Brain Dev. 2019 Nov;41(10):888-893. doi: 10.1016/j.braindev.2019.07.005. Epub 2019 Jul 25. Brain Dev. 2019. PMID: 31353122
However, seizures are not typical and the majority of them were seizure-free. Here we present the case of a 16q22.2-q23.1 interstitial deletion identified in a male patient with severe ID, facial anomalies including forehead protrusions and flat nose bridge, patent …
However, seizures are not typical and the majority of them were seizure-free. Here we present the case of a 16q22.2-q23.1 interstitia …
Apparent mineralocorticoid excess: type I and type II.
Mantero F, Palermo M, Petrelli MD, Tedde R, Stewart PM, Shackleton CH. Mantero F, et al. Steroids. 1996 Apr;61(4):193-6. doi: 10.1016/0039-128x(96)00012-8. Steroids. 1996. PMID: 8732999 Review.
Very recently (1995) two groups have independently demonstrated the presence of mutations in its gene, located in chromosome 16q22. New and co-workers found a point mutation in exon 6 of two affected siblings of an Iranian family, while White and co-workers i …
Very recently (1995) two groups have independently demonstrated the presence of mutations in its gene, located in chromosome …