P430: RAD51-related Fanconi anemia is commonly associated with VACTERL: Expanding the phenotypic spectrum with a fifth reported case

The proband underwent imperforate anus repair with diversion colostomy during the neonatal period, PDA ligation at age 2 ½ months, posterior sagittal anorectoplasty at age 11 months, and loop colostomy take-down and closure at age 19 months. For recurrent ear infections, underwent bilateral myringotomy and pressure equalization tube placement at age 19 months. She now attends third grade with an individualized education plan and continues receiving speech therapy for pronunciation difficulties.

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Publication Details

Journal
Genetics in Medicine Open
Published
2025-01-01
DOI
https://doi.org/10.1016/j.gimo.2025.103297
Primary Topic
Acute Lymphoblastic Leukemia research
Type
article
Field-Weighted Citation Impact
0.00
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article

P430: RAD51-related Fanconi anemia is commonly associated with VACTERL: Expanding the phenotypic spectrum with a fifth reported case

Marwan S. Shinawi, Andrea Stacy, David Brown Wilson, Burak Altintas et al.
Genetics in Medicine Open
Acute Lymphoblastic Leukemia research
article

P430: RAD51-related Fanconi anemia is commonly associated with VACTERL: Expanding the phenotypic spectrum with a fifth reported case

Marwan S. Shinawi, Andrea Stacy, David Brown Wilson, Burak Altintas, Katie Gettinger
article en

Abstract

The proband underwent imperforate anus repair with diversion colostomy during the neonatal period, PDA ligation at age 2 ½ months, posterior sagittal anorectoplasty at age 11 months, and loop colostomy take-down and closure at age 19 months. For recurrent ear infections, underwent bilateral myringotomy and pressure equalization tube placement at age 19 months. She now attends third grade with an individualized education plan and continues receiving speech therapy for pronunciation difficulties.

Genetics in Medicine OpenVol. 3
Washington University in St. Louis (US)
Zero hunger
Openalex Percentile: Top 93%
Acute Lymphoblastic Leukemia research
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