With Brachydactyly And Macroglossia X-Linked Mental Retardation

Also Known As:

Mental Retardation, X-Linked, With Brachydactyly And Macroglossia; Cabezas Syndrome; Cabezas X-Linked Mental Retardation Syndrome; MRXS15; Mental Retardation, X-Linked, Syndromic 15; Mental Retardation, X-Linked, With Short Stature, Small Testes, Muscle Wasting, And Tremor

Networked: 2 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Experts

1.	Imoto, Issei: 1 article (01/2017)
2.	Kohmoto, Tomohiro: 1 article (01/2017)
3.	Masuda, Kiyoshi: 1 article (01/2017)
4.	Matsuda, Keiko: 1 article (01/2017)
5.	Naruto, Takuya: 1 article (01/2017)
6.	Okamoto, Nobuhiko: 1 article (01/2017)
7.	Saito, Masako: 1 article (01/2017)
8.	Watanabe, Miki: 1 article (01/2017)
9.	Badura-Stronka, M: 1 article (02/2010)
10.	Budny, B: 1 article (02/2010)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to With Brachydactyly And Macroglossia X-Linked Mental Retardation:

Nonsense Codon (Nonsense Mutation)IBA

01/01/2017 - "A genome-first approach using targeted exome sequencing identified a novel nonsense mutation [NM_003588.3:c.2698G>T, p.(Glu900*)] in the last coding exon of CUL4B, thus diagnosing this patient with Cabezas syndrome."
02/01/2010 - "Based on the symptoms, we made a clinical diagnosis of Cabezas syndrome, which was subsequently confirmed by identification of a novel nonsense mutation (c.2107A-->T, p.703K-->X) in exon 18 of the CUL4B gene. "