List of bibliographic references
Number of relevant bibliographic references: 4.
| Ident. | Authors (with country if any) | Title |
|---|
| 000980 (2002) |
Sophie Dupuis-Girod [France] ; Nadège Corradini ; Smail Hadj-Rabia ; Jean-Christophe Fournet ; Laurence Faivre ; Françoise Le Deist ; Philippe Durand ; Rainer Döffinger ; Asma Smahi ; Alain Israel ; Gilles Courtois ; Nicole Brousse ; Stéphane Blanche ; Arnold Munnich ; Alain Fischer ; Jean-Laurent Casanova ; Christine Bodemer | Osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his mother. |
| 005535 (2013) |
Yan Zhao ; Dongjie Zang ; Hongjun Xu ; Shi-Jun Shan ; Cheng Zhou ; Jianzhong Zhang | Poikiloderma, hyperpigmentation, alopecia, hypohidrosis, malformed bones, lymphedema of the legs and decreased cortisol level: a new entity? |
| 006563 (2014) |
Ellyze Van Asbeck [États-Unis] ; Arivudainambi Ramalingam ; Chris Dvorak ; Tian-Jian Chen ; Eva Morava | Duplication at Xq28 involving IKBKG is associated with progressive macrocephaly, recurrent infections, ectodermal dysplasia, benign tumors, and neuropathy. |
| 007713 (2015) |
Sarah Joyce [Royaume-Uni] ; Kristiana Gordon [Royaume-Uni] ; Glen Brice [Royaume-Uni] ; Pia Ostergaard [Royaume-Uni] ; Rani Nagaraja [Royaume-Uni] ; John Short [Royaume-Uni] ; Sandra Moore [Royaume-Uni] ; Peter Mortimer (dermatologue) [Royaume-Uni] ; Sahar Mansour [Royaume-Uni] | The lymphatic phenotype in Noonan and Cardiofaciocutaneous syndrome |
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