Citation
Bonnet, D, et al. "A Gene for Holt-Oram Syndrome Maps to the Distal Long Arm of Chromosome 12." Nature Genetics, vol. 6, no. 4, 1994, pp. 405-8.
Bonnet D, Pelet A, Legeai-Mallet L, et al. A gene for Holt-Oram syndrome maps to the distal long arm of chromosome 12. Nat Genet. 1994;6(4):405-8.
Bonnet, D., Pelet, A., Legeai-Mallet, L., Sidi, D., Mathieu, M., Parent, P., Plauchu, H., Serville, F., Schinzel, A., & Weissenbach, J. (1994). A gene for Holt-Oram syndrome maps to the distal long arm of chromosome 12. Nature Genetics, 6(4), 405-8.
Bonnet D, et al. A Gene for Holt-Oram Syndrome Maps to the Distal Long Arm of Chromosome 12. Nat Genet. 1994;6(4):405-8. PubMed PMID: 8054983.
TY - JOUR
T1 - A gene for Holt-Oram syndrome maps to the distal long arm of chromosome 12.
A1 - Bonnet,D,
AU - Pelet,A,
AU - Legeai-Mallet,L,
AU - Sidi,D,
AU - Mathieu,M,
AU - Parent,P,
AU - Plauchu,H,
AU - Serville,F,
AU - Schinzel,A,
AU - Weissenbach,J,
PY - 1994/4/1/pubmed
PY - 1994/4/1/medline
PY - 1994/4/1/entrez
SP - 405
EP - 8
JF - Nature genetics
JO - Nat Genet
VL - 6
IS - 4
N2 - Holt-Oram syndrome (HOS) is an autosomal dominant condition of unknown origin characterized by congenital septal heart defects with associated malformations of the upper limbs (radial ray). Here, we report on the mapping of a gene causing HOS to the distal long arm of chromosome 12 (12q21-qter) by linkage analysis in nine informative families (Zmax = 6.81 at theta = 0 at the D12S354 locus). Also, multipoint linkage analysis places the HOS gene within the genetic interval between D12S84 and D12S79 (multipoint lod-score in log base 10 = 8.10). The mapping of a gene for HOS is, to our knowledge, the first chromosomal localization of a gene responsible for congenital septal heart defect in human. The characterization of the HOS gene will hopefully shed light on the molecular mechanisms that govern heart septation in the early stages of embryogenesis.
SN - 1061-4036
UR - https://www.unboundmedicine.com/medline/citation/8054983/A_gene_for_Holt_Oram_syndrome_maps_to_the_distal_long_arm_of_chromosome_12_
L2 - https://doi.org/10.1038/ng0494-405
DB - PRIME
DP - Unbound Medicine
ER -