000 02224nam a22003378i 4500
001 CR9780511544101
003 UkCbUP
005 20200124160318.0
006 m|||||o||d||||||||
007 cr||||||||||||
008 090506s2005||||enk o ||1 0|eng|d
020 _a9780511544101 (ebook)
020 _z9780521821858 (hardback)
020 _z9780521184328 (paperback)
040 _aUkCbUP
_beng
_erda
_cUkCbUP
050 0 0 _aRB155.5
_b.V45 2005
082 0 4 _a616.042
_222
245 0 0 _aVelo-cardio-facial syndrome :
_ba model for understanding microdeletion disorders /
_cedited by Kieran C. Murphy, Peter J. Scambler.
264 1 _aCambridge :
_bCambridge University Press,
_c2005.
300 _a1 online resource (xi, 243 pages) :
_bdigital, PDF file(s).
336 _atext
_btxt
_2rdacontent
337 _acomputer
_bc
_2rdamedia
338 _aonline resource
_bcr
_2rdacarrier
500 _aTitle from publisher's bibliographic system (viewed on 05 Oct 2015).
520 _aVelo-Cardio-Facial Syndrome (VCFS) is a genetic disorder caused by the deletion of part of chromosome 22. It occurs in approximately one in 4000 births and there are now more than 100 physical phenotypic features reported. VCFS affects every major system in the body and this 2005 book was the first to describe its full clinical impact. It has been authored by leading international VCFS clinicians/researchers. The focus is on clinical issues with chapters devoted to psychiatric disorders (with the sufferer showing very high levels of schizophrenia), neuroimaging, speech and language disorders, as well as cardiac, ENT, gastrointestinal, ophthalmic and urological manifestations. Molecular genetics, immunodeficiency and genetic counselling are also covered, and practical approaches to diagnosis and treatment described. As VCFS is seen as a paradigm for other microdeletion disorders, this book will not just appeal to clinicians seeing VCFS patients, but also to those interested in other genetic disorders.
650 0 _aGenetic disorders.
700 1 _aMurphy, Kieran C.,
_eeditor.
700 1 _aScambler, Peter J.,
_eeditor.
776 0 8 _iPrint version:
_z9780521821858
856 4 0 _uhttps://doi.org/10.1017/CBO9780511544101
999 _c521638
_d521636