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partial albinism immunodeficiency syndrome 相关文献:
Chediak-Higashi syndrome.
Talbert ML, Malicdan MCV, Introne WJ.
Curr Opin Hematol. 2023 Jul 1;30(4):144-151. doi: 10.1097/MOH.0000000000000766. Epub 2023 Apr 25.
PMID:37254856
Partial albinism with immunodeficiency: Griscelli syndrome: report of a case and review of the literature.
Mancini AJ, Chan LS, Paller AS.
J Am Acad Dermatol. 1998 Feb;38(2 Pt 2):295-300. doi: 10.1016/s0190-9622(98)70568-7.
PMID:9486701
Chediak-Higashi Syndrome.
Toro C, Morimoto M, Malicdan MC, Adams DR, Introne WJ.
2009 Mar 3 [updated 2023 Dec 21]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024.
PMID:20301751
Partial albinism with immunodeficiency (Griscelli syndrome).
Klein C, Philippe N, Le Deist F, Fraitag S, Prost C, Durandy A, Fischer A, Griscelli C.
J Pediatr. 1994 Dec;125(6 Pt 1):886-95. doi: 10.1016/s0022-3476(05)82003-7.
PMID:7996360
[Immunodeficiency and partial albinism, Griscelli syndrome].
Kawakami T, Mizoguchi M.
Ryoikibetsu Shokogun Shirizu. 2000;(32):302-4.
PMID:11212724
Clinical, laboratory and molecular signs of immunodeficiency in patients with partial oculo-cutaneous albinism.
Dotta L, Parolini S, Prandini A, Tabellini G, Antolini M, Kingsmore SF, Badolato R.
Orphanet J Rare Dis. 2013 Oct 17;8:168. doi: 10.1186/1750-1172-8-168.
PMID:24134793
Chediak-Higashi syndrome.
Barak Y, Nir E.
Am J Pediatr Hematol Oncol. 1987 Spring;9(1):42-55. doi: 10.1097/00043426-198721000-00008.
PMID:3296821
A syndrome associating partial albinism and immunodeficiency.
Griscelli C, Durandy A, Guy-Grand D, Daguillard F, Herzog C, Prunieras M.
Am J Med. 1978 Oct;65(4):691-702. doi: 10.1016/0002-9343(78)90858-6.
PMID:707528
Partial albinism and immunodeficiency in patients with Hermansky-Pudlak Type II: Introducing 2 novel mutations.
Alizadeh Z, Nabilou S, Mazinani M, Tajik S, Hamidieh AA, Houshmand M, Fazlollahi MR, Pourpak Z.
Scand J Immunol. 2021 Jan;93(1):e12966. doi: 10.1111/sji.12966. Epub 2020 Sep 14.
PMID:32869296
Partial albinism, immunodeficiency, hypergammaglobulinemia and Dandy-Walker cyst--a Griscelli syndrome variant.
Dinakar C, Lewin S, Kumar KR, Harshad SR.
Indian Pediatr. 2003 Oct;40(10):1005-8.
PMID:14581742
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