Identification of somatic chromosomal abnormalities in hypothalamic hamartoma tissue at the GLI3 locus.
about
Somatic mutations in GLI3 and OFD1 involved in sonic hedgehog signaling cause hypothalamic hamartoma.Mutations of the Sonic Hedgehog Pathway Underlie Hypothalamic Hamartoma with Gelastic Epilepsy.Nervous system involvement in von Hippel-Lindau disease: pathology and mechanisms.Diagnosis and management of epilepsy associated with hypothalamic hamartoma: an evidence-based systematic review.Pallister-Hall syndrome has gone the way of modern medical genetics.Hypothalamic hamartoma: Neuropathology and epileptogenesis.Total colonic aganglionosis and imperforate anus in a severely affected infant with Pallister-Hall syndrome.Holoprosencephaly-diencephalic hamartoma: Sequence or pleiotropy?
P2860
Q36891722-577AFCE3-D354-46EA-BF4A-FF0C1C055EAFQ37152978-0810DFB3-F1AC-4CF2-9486-FD24348E03F2Q38080737-A10E116A-BF00-4019-B5E3-674A768C36CCQ38106639-0A4CF530-E211-47AE-950A-7FA928C77E57Q38271423-B2424FB9-A98C-4552-8DE8-AB7942BB4292Q52092212-8AAC39A3-2CB5-4018-958C-39BBDD199C5CQ53029953-0A500C96-B3AF-43B8-ABC4-FA1911A4F1BBQ58546064-5F590F90-6232-4727-AAFD-61992E5A8CF0
P2860
Identification of somatic chromosomal abnormalities in hypothalamic hamartoma tissue at the GLI3 locus.
description
2008 nî lūn-bûn
@nan
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
2008年论文
@zh
2008年论文
@zh-cn
name
Identification of somatic chro ...... toma tissue at the GLI3 locus.
@ast
Identification of somatic chro ...... toma tissue at the GLI3 locus.
@en
type
label
Identification of somatic chro ...... toma tissue at the GLI3 locus.
@ast
Identification of somatic chro ...... toma tissue at the GLI3 locus.
@en
prefLabel
Identification of somatic chro ...... toma tissue at the GLI3 locus.
@ast
Identification of somatic chro ...... toma tissue at the GLI3 locus.
@en
P2093
P2860
P1476
Identification of somatic chro ...... rtoma tissue at the GLI3 locus
@en
P2093
Abraham Itty
Aswin Sekar
Corrie Panganiban
David Reiman
David W Craig
Dietrich A Stephan
John F Kerrigan
Michael C Kruer
Szabolcs Szelinger
P2860
P304
P356
10.1016/J.AJHG.2007.10.006
P407
P50
P577
2008-01-31T00:00:00Z