Porc-haj hypoplasia

Translated title of the contribution: Cartilage-hair hypoplasia

M. Erdős, B. Tóth, Zsuzsanna Almássy, László Tímár, L. Máródi

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

Cartilage-hair hypoplasia is a rare, autosomal recessive primary immunodeficiency disorder characterized by predominantly T-cell deficiency and metaphyseal chondrodysplasia. The authors summarize current knowledge on molecular genetics, diagnostic characteristics and therapeutic options of this inherited immunodeficiency.

Original languageHungarian
Pages (from-to)209-217
Number of pages9
JournalOrvosi Hetilap
Volume149
Issue number5
DOIs
Publication statusPublished - Feb 3 2008

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Enchondromatosis
Molecular Pathology
Molecular Biology
T-Lymphocytes
Therapeutics
Cartilage-hair hypoplasia

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Porc-haj hypoplasia. / Erdős, M.; Tóth, B.; Almássy, Zsuzsanna; Tímár, László; Máródi, L.

In: Orvosi Hetilap, Vol. 149, No. 5, 03.02.2008, p. 209-217.

Research output: Contribution to journalArticle

Erdős, M. ; Tóth, B. ; Almássy, Zsuzsanna ; Tímár, László ; Máródi, L. / Porc-haj hypoplasia. In: Orvosi Hetilap. 2008 ; Vol. 149, No. 5. pp. 209-217.
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