Universität zu Köln

Yigit, G. and Wollnik, B. (2012). Molecular mechanisms underlying Seckel syndrome. Med. Genet., 24 (4). S. 284 - 289. HEIDELBERG: SPRINGER HEIDELBERG. ISSN 1863-5490

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Abstract

Seckel syndrome is an autosomal recessive disorder characterized by proportionately short stature, severe microcephaly, mental retardation and craniofacial deformities that give rise to the typical bird head appearance. In some patients, premature onset of aging-associated diseases is also observed. In terms of genetics, Seckel syndrome is a heterogeneous condition for which many causal genes have been identified in recent years. In addition to genes involved in cellular activities, these include genes with important roles in cell division processes and the activation of DNA damage responses.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Yigit, G. UNSPECIFIED UNSPECIFIED UNSPECIFIED Wollnik, B. UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-477339
DOI:	10.1007/s11825-012-0359-3
Journal or Publication Title:	Med. Genet.
Volume:	24
Number:	4
Page Range:	S. 284 - 289
Date:	2012
Publisher:	SPRINGER HEIDELBERG
Place of Publication:	HEIDELBERG
ISSN:	1863-5490
Language:	German
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language PROTEIN; ATR; MUTATIONS; CEP152; CPAP; PCNT Multiple languages Genetics & Heredity Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/47733