A severe clinicopathologic phenotype of <i>RAF1</i> <scp>Ser257Leu</scp> neomutation in a preterm infant without cardiac anomaly-Reference-Cited by-同舟云学术

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A severe clinicopathologic phenotype of RAF1 Ser257Leu neomutation in a preterm infant without cardiac anomaly

Published:2022-11-05 Issue:2 Volume:191 Page:630-633
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Darouich Sihem¹²^ORCID,Chakroun Ahmed Sahbi³,Bellamine Houda⁴,Khamassi Ichrak⁵

Affiliation:

1. Faculté de Médecine de Tunis Université de Tunis El Manar Tunis Tunisia

2. Unité de Pathologie Foetale et Placentaire, CHU Habib Bougatfa Bizerte Tunisie

3. Laboratoire d'Epidémiologie Moléculaire et Pathologie Expérimentale, Institut Pasteur de Tunis Tunis Tunisie

4. Département de Cytologie et Anatomie Pathologiques Hôpital Menzel Bourguiba Menzel Bourguiba Tunisie

5. Département de Néonatologie et Pédiatrie CHU Habib Bougatfa Bizerte Tunisie

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.63035

Reference5 articles.

1. Targeted ultrasound examination and DNA testing for Noonan syndrome, in fetuses with increased nuchal translucency and normal karyotype

2. Fetal hydrops – a review and a clinical approach to identifying the cause

3. The impact of RASopathy-associated mutations on CNS development in mice and humans

4. Noonan Syndrome: Clinical Aspects and Molecular Pathogenesis

5. RAF1 variants causing biventricular hypertrophic cardiomyopathy in two preterm infants: further phenotypic delineation and review of literature

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