Prenatal delineation of a distinct lethal fetal syndrome caused by a homozygous truncating KIDINS220 variant-Reference-Cited by-同舟云学术

Prenatal delineation of a distinct lethal fetal syndrome caused by a homozygous truncating KIDINS220 variant

Published:2020-09-10 Issue:12 Volume:182 Page:2867-2876
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

El‐Dessouky Sara H.¹^ORCID,Issa Mahmoud Y.²^ORCID,Aboulghar Mona M.³,Gaafar Hassan M.³,Elarab Ahmed Ezz³,Ateya Mohamed I.³,Omar Heba H.⁴,Beetz Christian⁴,Zaki Maha Saad²^ORCID

Affiliation:

1. Prenatal Diagnosis and Fetal Medicine Department, Human Genetics and Genome Research Division, National Research Centre Cairo Egypt

2. Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre Cairo Egypt

3. Department of Obstetrics and Gynecology, Fetal Medicine Unit Cairo University Cairo Egypt

4. Diagnostic and Research Department Centogene AG Rostock Germany

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61858

Reference49 articles.

1. Dysmorphogenesis of joints, brain, and palate: A new dominantly inherited syndrome

2. Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis

3. Kidins220 and tumour development: Insights into a complexity of cross-talk among signalling pathways (Review)

4. Brain-Derived Neurotrophic Factor Modulates Cerebellar Plasticity and Synaptic Ultrastructure

5. Kidins220/ARMS mediates the integration of the neurotrophin and VEGF pathways in the vascular and nervous systems

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