Cartilage-hair hypoplasia with normal height in childhood-4 patients with a unique genotype

P. Klemetti, H. Valta, S. Kostjukovits, M. Taskinen, S. Toiviainen-Salo, O. Makitie

Research output: Contribution to journalArticleScientificpeer-review

Original languageEnglish
JournalClinical Genetics
Volume92
Issue number2
Pages (from-to)204-207
Number of pages4
ISSN0009-9163
DOIs
Publication statusPublished - Aug 2017
MoE publication typeA1 Journal article-refereed

Fields of Science

  • immunodeficiency
  • non-Hodgkin lymphoma
  • RMRP
  • short stature
  • skeletal dysplasia
  • ANAUXETIC DYSPLASIA SPECTRUM
  • MOLECULAR-BASIS
  • MUTATIONS
  • RNA
  • VARIABILITY
  • PHENOTYPE
  • FEATURES
  • GROWTH
  • 3123 Gynaecology and paediatrics
  • 1184 Genetics, developmental biology, physiology

Cite this

@article{705362b72a4342bd8d8e587e6753a06e,
title = "Cartilage-hair hypoplasia with normal height in childhood-4 patients with a unique genotype",
keywords = "immunodeficiency, non-Hodgkin lymphoma, RMRP, short stature, skeletal dysplasia, ANAUXETIC DYSPLASIA SPECTRUM, MOLECULAR-BASIS, MUTATIONS, RNA, VARIABILITY, PHENOTYPE, FEATURES, GROWTH, 3123 Gynaecology and paediatrics, 1184 Genetics, developmental biology, physiology",
author = "P. Klemetti and H. Valta and S. Kostjukovits and M. Taskinen and S. Toiviainen-Salo and O. Makitie",
year = "2017",
month = "8",
doi = "10.1111/cge.12969",
language = "English",
volume = "92",
pages = "204--207",
journal = "Clinical Genetics",
issn = "0009-9163",
publisher = "Wiley",
number = "2",

}

Cartilage-hair hypoplasia with normal height in childhood-4 patients with a unique genotype. / Klemetti, P.; Valta, H.; Kostjukovits, S.; Taskinen, M.; Toiviainen-Salo, S.; Makitie, O.

In: Clinical Genetics, Vol. 92, No. 2, 08.2017, p. 204-207.

Research output: Contribution to journalArticleScientificpeer-review

TY - JOUR

T1 - Cartilage-hair hypoplasia with normal height in childhood-4 patients with a unique genotype

AU - Klemetti, P.

AU - Valta, H.

AU - Kostjukovits, S.

AU - Taskinen, M.

AU - Toiviainen-Salo, S.

AU - Makitie, O.

PY - 2017/8

Y1 - 2017/8

KW - immunodeficiency

KW - non-Hodgkin lymphoma

KW - RMRP

KW - short stature

KW - skeletal dysplasia

KW - ANAUXETIC DYSPLASIA SPECTRUM

KW - MOLECULAR-BASIS

KW - MUTATIONS

KW - RNA

KW - VARIABILITY

KW - PHENOTYPE

KW - FEATURES

KW - GROWTH

KW - 3123 Gynaecology and paediatrics

KW - 1184 Genetics, developmental biology, physiology

U2 - 10.1111/cge.12969

DO - 10.1111/cge.12969

M3 - Article

VL - 92

SP - 204

EP - 207

JO - Clinical Genetics

JF - Clinical Genetics

SN - 0009-9163

IS - 2

ER -