[HTML][HTML] Preimplantation diagnosis for sonic hedgehog mutation causing familial holoprosencephaly
Y Verlinsky, S Rechitsky, O Verlinsky… - … England Journal of …, 2003 - Mass Medical Soc
Y Verlinsky, S Rechitsky, O Verlinsky, S Ozen, T Sharapova, C Masciangelo, R Morris…
New England Journal of Medicine, 2003•Mass Medical SocMutations in the sonic hedgehog gene have been linked to holoprosencephaly. Mosaicism
for the sonic hedgehog mutation was identified by single-sperm testing in a man who had
fathered two affected children. Genomic DNA was normal in both parents on screening. The
use of preimplantation genetic diagnosis led to the birth of a healthy girl who was confirmed
to be free of the sonic hedgehog mutation.
for the sonic hedgehog mutation was identified by single-sperm testing in a man who had
fathered two affected children. Genomic DNA was normal in both parents on screening. The
use of preimplantation genetic diagnosis led to the birth of a healthy girl who was confirmed
to be free of the sonic hedgehog mutation.
Mutations in the sonic hedgehog gene have been linked to holoprosencephaly. Mosaicism for the sonic hedgehog mutation was identified by single-sperm testing in a man who had fathered two affected children. Genomic DNA was normal in both parents on screening. The use of preimplantation genetic diagnosis led to the birth of a healthy girl who was confirmed to be free of the sonic hedgehog mutation.
The New England Journal Of Medicine