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Dergiler / Journal of Clinical Research in Pediatric Endocrinology / 2016 / Cilt: 8 - Sayı: 3

Crouzonodermoskeletal Syndrome with Hypoplasia of Corpus Callosum and Inferior Vermis

FATİH GÜRBÜZ
Serdar CEYLANER
Ali Kemal TOPALOĞLU
BİLGİN YÜKSEL
Sayfa
373–374
DOI
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Yapay Zeka Hızlı Bakış & Çıkarımlar

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⚡ TL;DR(1 Cümlede Hızlı Çıkarım)

These patients should be investigated for other possible cranial MRI findings

📌 3 Maddede Bu Makale

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Amaç & Hipotez:hypoplasia of corpus callosum and inferior vermis.
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Temel Bulgular & Veri:This association may be coincidental.
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Sonuç & Katkı:These patients should be investigated for other possible cranial MRI findings
🔬Tür:Araştırma Makalesi
📍Kapsam:Genişletilmiş Akademik Örneklem
⚙️Değişkenler:Alan Parametreleri

Abstract

hypoplasia of corpus callosum and inferior vermis. This association may be coincidental. These patients should be investigated for other possible cranial MRI findings

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Bu Makaleye Atıf Yap

GÜRBÜZ, F., CEYLANER, S., TOPALOĞLU, A. K., YÜKSEL, B. (2016). Crouzonodermoskeletal Syndrome with Hypoplasia of Corpus Callosum and Inferior Vermis. Journal of Clinical Research in Pediatric Endocrinology, Cilt: 8 - Sayı: 3, 373–374. https://ajindex.com/articles/219009

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Kaynakça (2)

  1. Di Rocco F, Collet C, Legeai-Mallet L, Arnaud E, Le Merrer M, Hadj-Rabia S, Renier D. Crouzon syndrome with acanthosis vnigricans: a case-based update. Childs Nerv Syst 2011;27:349-354. Epub 2010 Dec 7 Wilkes D, Rutland P, Pulleyn LJ, Reardon W, Moss C, Ellis JP, Winter RM, Malcolm S. A recurrent mutation, ala391glu, in the transmembrane region of FGFR3 causes Crouzon syndrome and acanthosis nigricans. J Med Genet 1996;33:744-748. Horton WA. Recent milestones in achondroplasia research. Am J Med Genet 2006;140:166-169.
  2. Meyers GA, Orlow SJ, Munro IR, Przylepa KA, Jabs EW. Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans. Nat Genet 1995;11:462-464. Arnaud-López L, Fragoso R, Mantilla-Capacho J, Barros-Nşñez P. Crouzon with acanthosis nigricans. Further delineation of the syndrome. Clin Genet 2007;72:405-410.