Phenotypic features of 1q41q42 microdeletion including <ce:italic>WDR26</ce:italic> and <ce:italic>FBXO28</ce:italic> are clinically recognizable: The first case from Japan

1q41q42 microdeletion syndrome has been established in 2007. Since then, more than 17 patients have been reported so far. The reported deletions showed random breakpoints and deletion regions are aligned as roof tiles. Patients with 1q41q42 microdeletion syndrome show intellectual disability, seizur...
Ausführliche Beschreibung

Gespeichert in:
Autor*in:

Yanagishita, Tomoe [verfasserIn]

Yamamoto-Shimojima, Keiko

Nakano, Sayaka

Sasaki, Testuya

Shigematsu, Hideo

Imai, Katsumi

Yamamoto, Toshiyuki

Format:

E-Artikel

Sprache:

Englisch

Erschienen:

2019transfer abstract

Schlagwörter:

Smallest region of overlap (SRO)

Ataxic gait

Chromosomal microarray testing

Loss-of-function

Umfang:

4

Übergeordnetes Werk:

Enthalten in: Hydrogen bonding interactions and supramolecular assemblies in 2-amino guanidinium 4-methyl benzene sulphonate crystal structure: Hirshfeld surfaces and computational calculations - Muthuraja, P. ELSEVIER, 2017transfer abstract, official journal of the Japanese Society of Child Neurology, Amsterdam [u.a.]

Übergeordnetes Werk:

volume:41 ; year:2019 ; number:5 ; pages:452-455 ; extent:4

Links:

Volltext

DOI / URN:

10.1016/j.braindev.2018.12.006

Katalog-ID:

ELV046283560

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