Universität zu Köln

Yigit, Goekhan, Rosin, Nadine and Wollnik, Bernd (2015). Molecular basis of autosomal recessive primary microcephaly. Med. Genet., 27 (4). S. 345 - 351. HEIDELBERG: SPRINGER HEIDELBERG. ISSN 1863-5490

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Abstract

Autosomal recessive primary microcephaly (MCPH) is a genetically very heterogeneous disorder, mainly characterized by severe microcephaly at birth, mental retardation of variable extent in the absence of any additional significant neurological findings, malformations, or growth anomalies. So far, 14 different genes have been identified, which on a cellular level play an important role during cell division processes, regulation of the cell cycle, and in DNA damage responses. Furthermore, microcephaly may occur as part of a syndrome such as Seckel syndrome or microcephalic osteodysplastic primordial dwarfism type II (MOPD II).

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Yigit, Goekhan UNSPECIFIED UNSPECIFIED UNSPECIFIED Rosin, Nadine UNSPECIFIED UNSPECIFIED UNSPECIFIED Wollnik, Bernd UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-384688
DOI:	10.1007/s11825-015-0068-9
Journal or Publication Title:	Med. Genet.
Volume:	27
Number:	4
Page Range:	S. 345 - 351
Date:	2015
Publisher:	SPRINGER HEIDELBERG
Place of Publication:	HEIDELBERG
ISSN:	1863-5490
Language:	German
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language ABNORMAL SPINDLE PROTEIN; CHROMOSOME CONDENSATION; CENTROSOMAL PROTEIN; SECKEL-SYNDROME; MUTATIONS; ASPM; FAMILIES; ENCODES; LOCUS; STIL Multiple languages Genetics & Heredity Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/38468