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. |
| 004B97 (2012) |
Hiroyuki Ishida [Japon] ; Kosuke Imai ; Kenichi Honma ; Shin-Ichi Tamura ; Toshihiko Imamura ; Masafumi Ito ; Shigeaki Nonoyama | GATA-2 anomaly and clinical phenotype of a sporadic case of lymphedema, dendritic cell, monocyte, B- and NK-cell (DCML) deficiency, and myelodysplasia. |
| 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. |
| 006987 (2014) |
Melissa A. Muszynski [États-Unis] ; Christa S. Zerbe [États-Unis] ; Steven M. Holland [États-Unis] ; Heidi H. Kong [États-Unis] | A woman with warts, leg swelling, and deafness |
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