Sacral dysgenesis associated with terminal deletion of chromosome 7q: a report of two families.

Sacral dysgenesis associated with terminal deletion of chromosome 7q: a report of two families.

Item
http://www.wikidata.org/entity/Q41925167
Subtelomeric FISH analysis in 76 patients with syndromic developmental delay/intellectual disability.Telomeres: a diagnosis at the end of the chromosomesControl of mammalian kidney development by the Hedgehog signaling pathway.Terminal deletion of the chromosome 7(q36-qter) in an infant with sacral agenesis and anterior myelomeningocele.Mapping candidate regions and genes for congenital anomalies of the kidneys and urinary tract (CAKUT) by array-based comparative genomic hybridization.Caudal regression syndrome in one of dizygotic twins.Minimal clinical expression of the holoprosencephaly spectrum and of Currarino syndrome due to different cytogenetic rearrangements deleting the Sonic Hedgehog gene and the HLXB9 gene at 7q36.3.Three new cases of terminal deletion of the long arm of chromosome 7 and literature review to correlate genotype and phenotype manifestations.Urine retention as the first presentation of congenital absence of the sacrum: A case report of a rare clinical phenomenon
P2860

Sacral dysgenesis associated with terminal deletion of chromosome 7q: a report of two families.

Item
http://www.wikidata.org/entity/Q41925167
description
1999 nî lūn-bûn
@nan
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
1999年论文
@zh
1999年论文
@zh-cn
name
Sacral dysgenesis associated w ...... 7q: a report of two families.
@en
type
label
Sacral dysgenesis associated w ...... 7q: a report of two families.
@en
prefLabel
Sacral dysgenesis associated w ...... 7q: a report of two families.
@en
P1433
P1476
P2093
P2888
P304
P31
P356
P433
P478
P577
P698
P356
P1433
P1476
Sacral dysgenesis associated w ...... 7q: a report of two families.
@en
P2093
P2888
P304
P31
P356
P433
P478
P577
P698