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:
CreatorsEmailORCIDORCID Put Code
Yigit, GoekhanUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Rosin, NadineUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wollnik, BerndUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
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:
KeywordsLanguage
ABNORMAL SPINDLE PROTEIN; CHROMOSOME CONDENSATION; CENTROSOMAL PROTEIN; SECKEL-SYNDROME; MUTATIONS; ASPM; FAMILIES; ENCODES; LOCUS; STILMultiple languages
Genetics & HeredityMultiple languages
URI: http://kups.ub.uni-koeln.de/id/eprint/38468

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