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...

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Hlavní autoři: Kilcoyne, S, Potter, KR, Gordon, Z, Overton, S, Brockbank, S, Jayamohan, J, Magdum, S, Smith, M, Johnson, D, Wall, S, Wilkie, AOM
Médium: Journal article
Jazyk:English
Vydáno: Lippincott, Williams and Wilkins 2021