Brachydactyly and mental retardation: an Albright hereditary osteodystrophy-like syndrome localized to 2q37.
about
Isolated autosomal dominant type E brachydactyly: exclusion of linkage to candidate regions 2q37 and 20q13RDCI, the vasoactive intestinal peptide receptor: a candidate gene for the features of Albright hereditary osteodystrophy associated with deletion of 2q37Deletion and point mutations of PTHLH cause brachydactyly type E.Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems.Brachydactyly type B: clinical description, genetic mapping to chromosome 9q, and evidence for a shared ancestral mutation.Brachydactyly type B: linkage to chromosome 9q22 and evidence for genetic heterogeneityLoss of heterozygosity at 2q37 in sporadic Wilms' tumor: putative role for miR-562.Telomeres: a diagnosis at the end of the chromosomesAutomated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation.A cryptic deletion of 2q35 including part of the PAX3 gene detected by breakpoint mapping in a child with autism and a de novo 2;8 translocationMolecular cytogenetic analysis of telomere rearrangements.Familial cryptic translocation between chromosomes 2qter and 8qter: further delineation of the Albright hereditary osteodystrophy-like phenotypeDown Syndrome Related Muscle Hypotonia: Association with COL6A3 Functional SNP rs2270669.Phenotypic variant of Brachydactyly-mental retardation syndrome in a family with an inherited interstitial 2q37.3 microdeletion including HDAC4Brachydactyly E: isolated or as a feature of a syndrome2q37 Deletion syndrome confirmed by high-resolution cytogenetic analysis.Severe growth hormone deficiency and pituitary malformation in a patient with chromosome 2p25 duplication and 2q37 deletion.Balanced translocation 46,XY,t(2;15)(q37.2;q11.2) associated with atypical Prader-Willi syndrome.What to consider when pseudohypoparathyroidism is ruled out: iPPSD and differential diagnosis.Reorganization of chromosomal interactions in the 2q37-deletion syndromeBrachydactyly Mental Retardation Syndrome Diagnosed in Adulthood
P2860
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P2860
Brachydactyly and mental retardation: an Albright hereditary osteodystrophy-like syndrome localized to 2q37.
description
1995 nî lūn-bûn
@nan
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
1995年论文
@zh
1995年论文
@zh-cn
name
Brachydactyly and mental retar ...... ke syndrome localized to 2q37.
@ast
Brachydactyly and mental retar ...... ke syndrome localized to 2q37.
@en
type
label
Brachydactyly and mental retar ...... ke syndrome localized to 2q37.
@ast
Brachydactyly and mental retar ...... ke syndrome localized to 2q37.
@en
prefLabel
Brachydactyly and mental retar ...... ke syndrome localized to 2q37.
@ast
Brachydactyly and mental retar ...... ke syndrome localized to 2q37.
@en
P2093
P2860
P1476
Brachydactyly and mental retar ...... ike syndrome localized to 2q37
@en
P2093
Duckett DP
Leonard JV
Leverton K
Oude Luttikhuis ME
Wolstenholme J
P2860
P304
P407
P577
1995-02-01T00:00:00Z