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- Title
Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.
- Authors
Messiaen, Ludwine; Yao, Suxia; Brems, Hilde; Callens, Tom; Sathienkijkanchai, Achara; Denayer, Ellen; Spencer, Emily; Arn, Pamela; Babovic-Vuksanovic, Dusica; Bay, Carolyn; Bobele, Gary; Cohen, Bruce H; Escobar, Luis; Eunpu, Deborah; Grebe, Theresa; Greenstein, Robert; Hachen, Rachel; Irons, Mira; Kronn, David; Lemire, Edmond; Leppig, Kathleen; Lim, Cynthia; McDonald, Marie; Narayanan, Vinodh; Pearn, Amy; Pedersen, Robert; Powell, Berkley; Shapiro, Lawrence R; Skidmore, David; Tegay, David; Thiese, Heidi; Zackai, Elaine H; Vijzelaar, Raymon; Taniguchi, Koji; Ayada, Toranoshin; Okamoto, Fuyuki; Yoshimura, Akihiko; Parret, Annabel; Korf, Bruce; Legius, Eric
- Abstract
Autosomal dominant inactivating sprouty-related EVH1 domain-containing protein 1 (SPRED1) mutations have recently been described in individuals presenting mainly with café au lait macules (CALMs), axillary freckling, and macrocephaly. The extent of the clinical spectrum of this new disorder needs further delineation.
- Publication
JAMA, 2009, Vol 302, Issue 19, p2111
- ISSN
1538-3598
- Publication type
Journal Article
- DOI
10.1001/jama.2009.1663