A recessive variant in SIM2 in a child with complex craniofacial anomalies and global developmental delay

Rare deletions and duplications on the long arm of Chromosome 21 have previously been reported in many patients with craniofacial and developmental phenotypes. However, this Down Syndrome Critical Region (DSCR) contains multiple genes, making identifying a single causative gene difficult. Here, we r...

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Veröffentlicht in:	European journal of medical genetics 2022-04, Vol.65 (4), p.104455-104455, Article 104455
Hauptverfasser:	Al-Kurbi, Alya A., Da'as, Sahar Isa, Aamer, Waleed, Krishnamoorthy, Navaneethakrishnan, Poggiolini, Ilaria, Abdelrahman, Doua, Elbashir, Najwa, Al-Shabeeb Akil, Ammira, Glass, Graeme E., Fakhro, Khalid A.
Format:	Artikel
Sprache:	eng
Schlagworte:	Craniosynostosis Developmental delay Facial dysmorphism Intellectual disability Whole-genome sequencing Zebrafish model
Online-Zugang:	Volltext
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