A case report of Pallister-Killian syndrome with an unusual mosaic supernumerary marker chromosome 12 with interstitial 12p13.1-p12.1 duplication › Research Explorer

Novosibirsk State University's Research Portal

A case report of Pallister-Killian syndrome with an unusual mosaic supernumerary marker chromosome 12 with interstitial 12p13.1-p12.1 duplication

Research output: Contribution to journal › Article › peer-review

DOI

https://doi.org/10.3389/fgene.2024.1331066
Final published version

T. V. Karamysheva
I. N. Lebedev
L. I. Minaycheva
L. P. Nazarenko
A. A. Kashevarova
D. A. Fedotov
N. A. Skryabin
M. E. Lopatkina
A. D. Cheremnykh
E. A. Fonova
T. V. Nikitina
E. A. Sazhenova
M. M. Skleimova
N. A. Kolesnikov
G. V. Drozdov
Y. S. Yakovleva
G. N. Seitova
K. E. Orishchenko
N. B. Rubtsov

Original language	English
Article number	1331066
Journal	Frontiers in Genetics
Volume	15
DOIs	https://doi.org/10.3389/fgene.2024.1331066
Publication status	Published - Mar 2024

Research areas

Pallister-Killian syndrome (PKS), a supernumerary marker of chromosome 12, chromosomal abnormalities, duplication 12p13.33-p11.1, mosaic trisomy 12p, the chromosomal region 12pter-12q11

OECD FOS+WOS

1.06.KM GENETICS & HEREDITY

ID: 60479020