Feeding, communication, hydrocephalus, and intracranial hypertension in patients with severe FGFR2-associated Pfeiffer syndrome
<p><strong>Background:</strong> Pfeiffer syndrome is associated with a genetic mutation of the FGFR2 (or more rarely, FGFR1) gene, and features the combination of craniosynostosis, midface hypoplasia, broad thumbs and broad great toes. Previous research has identified a wide spectr...
Main Authors: | Kilcoyne, S, Potter, KR, Gordon, Z, Overton, S, Brockbank, S, Jayamohan, J, Magdum, S, Smith, M, Johnson, D, Wall, S, Wilkie, AOM |
---|---|
格式: | Journal article |
语言: | English |
出版: |
Lippincott, Williams and Wilkins
2021
|
相似书籍
-
Language development, hearing loss, and intracranial hypertension in children with TWIST1-confirmed Saethre-Chotzen syndrome
由: Kilcoyne, S, et al.
出版: (2019) -
Hearing, speech, language and communicative participation in patients with Apert syndrome: analysis of correlation with Fibroblast Growth Factor Receptor 2 mutation
由: Kilcoyne, S, et al.
出版: (2021) -
Changes in <em>FGFR2</em> amino-acid residue Asn549 lead to Crouzon and Pfeiffer syndrome with hydrocephalus
由: Caroline Apra, et al.
出版: (2016-10-01) -
Intracranial hypertension in TWIST1-confirmed Saethre-Chotzen syndrome
由: Woods, R, et al.
出版: (2009) -
Reoperation for intracranial hypertension in TWIST1-confirmed Saethre-Chotzen syndrome: a 15-year review.
由: Woods, R, et al.
出版: (2009)