Prenatal identification of a pathogenic maternal FGFR1 variant in two consecutive pregnancies with fetal forebrain malformations

Author:

Graziani Ludovico1,Nuovo Sara2,Pisaneschi Elisa3,Carriero Miriam Lucia1,Baghernajad Salehi Leila4,Nardone Anna Maria4,Manganaro Lucia5,Novelli Antonio3,D’Apice Maria Rosaria1,Mappa Ilenia6,Novelli Giuseppe14

Affiliation:

1. Department of Biomedicine and Prevention, University of Rome "Tor Vergata", Rome, Italy

2. Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy

3. Translational Cytogenomics Research Unit, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy

4. Medical Genetics Unit, Tor Vergata University Hospital, Rome, Italy

5. Department of Radiological, Oncological and Pathological Sciences, Sapienza University of Rome, Viale Regina Elena, Rome, Italy

6. Department of Obstetrics and Gynecology, Tor Vergata University Hospital, Rome, Italy

Funder

Ministero della Salute

Publisher

Informa UK Limited

Reference21 articles.

1. Fetal Magnetic Resonance Imaging (MRI) in Holoprosencephaly and Associations With Clinical Outcome: Implications for Fetal Counseling

2. Tekendo-Ngongang C Muenke M Kruszka P et al. Holoprosencephaly overview. In: Adam MP Feldman J Mirzaa GM et al. editors. GeneReviews® [Internet]. Seattle (WA): University of Washington Seattle; 1993 [cited 2024 Feb 2]. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1530/

3. Middle interhemispheric variant of holoprosencephaly: A rare midline malformation

4. Holoprosencephaly: Review of Embryology, Clinical Phenotypes, Etiology and Management

5. Holoprosencephaly: Clinical, anatomic, and molecular dimensions

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