Prenatal diagnosis of microcephaly as shown by plateauing of head circumference growth during the 3rd trimester in a fetus with a CCND2 inverse growth variant

What's already known? Variants in CCND2 gene are known to cause syndromic macrocephaly. Recently inverse growth proximal variants were described in five individuals with microcephaly. What does this study add? CCND2 loss of function distal variants can cause fetal microcephaly.

Detalles Bibliográficos
Autores principales: Malinger, Gustavo, Haratz Krajden, Karina, Brinbaum, Roee, Tsur, Erez, Berger, Racheli, Shohat, Mordechai
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Research Note
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9545358/
https://www.ncbi.nlm.nih.gov/pubmed/35437818
http://dx.doi.org/10.1002/pd.6148
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author Malinger, Gustavo
Haratz Krajden, Karina
Brinbaum, Roee
Tsur, Erez
Berger, Racheli
Shohat, Mordechai
author_facet Malinger, Gustavo
Haratz Krajden, Karina
Brinbaum, Roee
Tsur, Erez
Berger, Racheli
Shohat, Mordechai
author_sort Malinger, Gustavo
collection PubMed
description What's already known? Variants in CCND2 gene are known to cause syndromic macrocephaly. Recently inverse growth proximal variants were described in five individuals with microcephaly. What does this study add? CCND2 loss of function distal variants can cause fetal microcephaly.
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spelling pubmed-95453582022-10-14 Prenatal diagnosis of microcephaly as shown by plateauing of head circumference growth during the 3rd trimester in a fetus with a CCND2 inverse growth variant Malinger, Gustavo Haratz Krajden, Karina Brinbaum, Roee Tsur, Erez Berger, Racheli Shohat, Mordechai Prenat Diagn Research Note What's already known? Variants in CCND2 gene are known to cause syndromic macrocephaly. Recently inverse growth proximal variants were described in five individuals with microcephaly. What does this study add? CCND2 loss of function distal variants can cause fetal microcephaly. John Wiley and Sons Inc. 2022-04-28 2022-09 /pmc/articles/PMC9545358/ /pubmed/35437818 http://dx.doi.org/10.1002/pd.6148 Text en © 2022 The Authors. Prenatal Diagnosis published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by-nc/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc/4.0/ (https://creativecommons.org/licenses/by-nc/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.
spellingShingle Research Note
Malinger, Gustavo
Haratz Krajden, Karina
Brinbaum, Roee
Tsur, Erez
Berger, Racheli
Shohat, Mordechai
Prenatal diagnosis of microcephaly as shown by plateauing of head circumference growth during the 3rd trimester in a fetus with a CCND2 inverse growth variant
title Prenatal diagnosis of microcephaly as shown by plateauing of head circumference growth during the 3rd trimester in a fetus with a CCND2 inverse growth variant
title_full Prenatal diagnosis of microcephaly as shown by plateauing of head circumference growth during the 3rd trimester in a fetus with a CCND2 inverse growth variant
title_fullStr Prenatal diagnosis of microcephaly as shown by plateauing of head circumference growth during the 3rd trimester in a fetus with a CCND2 inverse growth variant
title_full_unstemmed Prenatal diagnosis of microcephaly as shown by plateauing of head circumference growth during the 3rd trimester in a fetus with a CCND2 inverse growth variant
title_short Prenatal diagnosis of microcephaly as shown by plateauing of head circumference growth during the 3rd trimester in a fetus with a CCND2 inverse growth variant
title_sort prenatal diagnosis of microcephaly as shown by plateauing of head circumference growth during the 3rd trimester in a fetus with a ccnd2 inverse growth variant
topic Research Note
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9545358/
https://www.ncbi.nlm.nih.gov/pubmed/35437818
http://dx.doi.org/10.1002/pd.6148
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