First case of pan-suture craniosynostosis due to de novo mosaic KAT6A mutation.

Korakavi, Nisha; Bupp, Caleb; Grysko, Bethany; Juusola, Jane; Borta, Chelsea; Madura, Casey

Korakavi, Nisha; Bupp, Caleb; Grysko, Bethany; Juusola, Jane; Borta, Chelsea; Madura, Casey.

Affiliation

Korakavi N; Department of Pediatrics and Human Development, Michigan State University College of Human Medicine, Grand Rapids, MI, 49503, USA.
Bupp C; Department of Pediatrics and Human Development, Michigan State University College of Human Medicine, Grand Rapids, MI, 49503, USA.
Grysko B; Spectrum Health Medical Genetics, Grand Rapids, MI, 49503, USA.
Juusola J; Spectrum Health Medical Genetics, Grand Rapids, MI, 49503, USA.
Borta C; Gene Dx, Inc., Gaithersburg, MD, 20877, USA.
Madura C; Helen DeVos Children's Hospital (Neurosurgery), 35 Michigan St. NE, Suite 3003, Grand Rapids, MI, 49503, USA.

Childs Nerv Syst ; 38(1): 173-177, 2022 01.

Article in En | MEDLINE | ID: mdl-33770237

Subject(s)

Arnold-Chiari Malformation; Craniosynostoses; Histone Acetyltransferases; Arnold-Chiari Malformation/surgery; Child, Preschool; Cranial Sutures; Craniosynostoses/diagnostic imaging; Craniosynostoses/genetics; Craniosynostoses/surgery; Histone Acetyltransferases/genetics; Humans; Male; Mutation/genetics; Neurosurgical Procedures

Key words

Chiari; Craniosynostosis; Exome; KAT6A; Mosaic

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Arnold-Chiari Malformation / Craniosynostoses / Histone Acetyltransferases Limits: Child, preschool / Humans / Male Language: En Journal: Childs Nerv Syst Journal subject: NEUROLOGIA / PEDIATRIA Year: 2022 Type: Article Affiliation country: United States

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