A large interstitial deletion of 17p13.1p11.2 involving the Smith-Magenis chromosome region in a girl with multiple congenital anomalies

article published in 2006

A large interstitial deletion of 17p13.1p11.2 involving the Smith-Magenis chromosome region in a girl with multiple congenital anomalies is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1002/AJMG.A.31055
P698PubMed publication ID16333830

P2093author name stringKenji Kurosawa
Naomichi Matsumoto
Naoki Harada
Toshiyuki Yamamoto
Motoyoshi Kawataki
Toshihide Asou
Michiko Yamanaka
Yuki Kondoh
Hideaki Ueda
P433issue1
P407language of work or nameEnglishQ1860
P304page(s)88-91
P577publication date2006-01-01
P1433published inAmerican Journal of Medical GeneticsQ4744254
P1476titleA large interstitial deletion of 17p13.1p11.2 involving the Smith-Magenis chromosome region in a girl with multiple congenital anomalies
P478volume140

Reverse relations

cites work (P2860)
Q58720812Clinical cardiac assessment in newborns with prenatally diagnosed intrathoracic masses
Q36835982Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases.
Q28252393Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum
Q33832304Miller-dieker syndrome associated with congenital lobar emphysema
Q81502955Partial trisomy 3p and monosomy 7p associated with tetralogy of Fallot and infantile seizure
Q36929869Prenatally diagnosed fetal lung lesions with associated conotruncal heart defects: is there a genetic association?
Q90712113The copy number variation landscape of congenital anomalies of the kidney and urinary tract

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