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Atypical Chédiak-Higashi syndrome with attenuated phenotype: three adult siblings homozygous for a novel LYST deletion and with neurodegenerative disease.

Weisfeld-Adams JD, Mehta L, Rucker JC, Dembitzer FR, Szporn A, Lublin FD, Introne WJ, Bhambhani V, Chicka MC, Cho C.

Orphanet J Rare Dis · 2013-03-22

DOI: 10.1186/1750-1172-8-46PMID: 23521865

A bibliographic record traceable to Europe PMC. Türkçe başlık: makine çevirisi, editoryal kontrol bekliyor.
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[Striatopallidodentate calcinosis, hypoparathyroidism and neurological features: a case series study].

El Otmani H, Lahlou I, Raji L, Omari S, Belmansour Y, Moutaouakil F, Boulaajaj FZ, Mouden M, Gam I, Hakim K, El Moutawakil B, Rafai MA, Fadel H, Slassi I.

Rev Neurol (Paris) · 2013-03-21

DOI: 10.1016/j.neurol.2012.11.005PMID: 23523016

A bibliographic record traceable to Europe PMC. Türkçe başlık: makine çevirisi, editoryal kontrol bekliyor.

Records come from scientific sources. Bibliographic counts do not represent completed translations or editorial approvals.

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