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A novel mutation Ala57Val of theELA2gene in a Korean boy with severe congenital neutropenia

✍ Scribed by Seung-Tae Lee; Hoi-Soo Yoon; Hee-Jin Kim; Jae-Hee Lee; Jun-Hee Park; Sun-Hee Kim; Jong-Jin Seo; Ho Joon Im


Publisher
Springer
Year
2008
Tongue
English
Weight
74 KB
Volume
88
Category
Article
ISSN
0939-5555

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## Abstract Poikiloderma with Neutropenia (PN), Clericuzio‐Type (OMIM #604173) is characterized by poikiloderma, chronic neutropenia, recurrent sinopulmonary infections, bronchiectasis, and nail dystrophy. First described by Clericuzio in 1991 in 14 patients of Navajo descent, it has since also bee