Genotype-phenotype associations in Fanconi anemia: a literature review
MO Fiesco-Roa, N Giri, LJ McReynolds, AF Best… - Blood reviews, 2019 - Elsevier
Fanconi anemia (FA) is a genomic instability syndrome with predisposition to congenital
abnormalities, bone marrow failure, and cancer. Classical and most frequent congenital …
abnormalities, bone marrow failure, and cancer. Classical and most frequent congenital …
An approach to the identification of anomalies and etiologies in neonates with identified or suspected VACTERL (vertebral defects, anal atresia, tracheo-esophageal …
BD Solomon, LA Baker, KA Bear… - The Journal of …, 2014 - jpeds.com
VATER association was first described in the early 1970s as the nonrandom co-occurrence
of congenital malformations including vertebral defects, anal atresia, tracheo-esophageal …
of congenital malformations including vertebral defects, anal atresia, tracheo-esophageal …
The etiology of VACTERL association: Current knowledge and hypotheses
BD Solomon - American Journal of Medical Genetics Part C …, 2018 - Wiley Online Library
VACTERL association is a condition involving the presence of multiple congenital
anomalies. The condition was first described more than four decades ago, and is not …
anomalies. The condition was first described more than four decades ago, and is not …
Clinical and etiological heterogeneity in patients with tracheo-esophageal malformations and associated anomalies
E Brosens, M Ploeg, Y van Bever, AE Koopmans… - European journal of …, 2014 - Elsevier
Esophageal Atresia (EA) is a severe developmental defect of the foregut that presents with
or without a Tracheo-Esophageal Fistula (TEF). The prevalence of EA/TEF over time and …
or without a Tracheo-Esophageal Fistula (TEF). The prevalence of EA/TEF over time and …
Fanconi anemia and dyskeratosis congenita/telomere biology disorders: Two inherited bone marrow failure syndromes with genomic instability
MÓ Fiesco-Roa, B García-de Teresa… - Frontiers in …, 2022 - frontiersin.org
Inherited bone marrow failure syndromes (IBMFS) are a complex and heterogeneous group
of genetic diseases. To date, at least 13 IBMFS have been characterized. Their …
of genetic diseases. To date, at least 13 IBMFS have been characterized. Their …
Thinking of VACTERL‐H? Rule out Fanconi Anemia according to PHENOS
BP Alter, N Giri - American journal of medical genetics Part A, 2016 - Wiley Online Library
VACTERL‐H association includes three of eight features: vertebral anomalies, anal atresia,
congenital heart disease, tracheo‐esophageal fistula, esophageal atresia, renal, limb …
congenital heart disease, tracheo‐esophageal fistula, esophageal atresia, renal, limb …
VACTERL-H association and Fanconi anemia
BP Alter, PS Rosenberg - Molecular syndromology, 2013 - karger.com
Patients with Fanconi anemia (FA) often have birth defects that suggest the diagnosis of
VATER association. A review of 2,245 cases of FA reported in the literature from 1927 to …
VATER association. A review of 2,245 cases of FA reported in the literature from 1927 to …
The genetic landscape and clinical implications of vertebral anomalies in VACTERL association
Y Chen, Z Liu, J Chen, Y Zuo, S Liu, W Chen… - Journal of medical …, 2016 - jmg.bmj.com
VACTERL association is a condition comprising multisystem congenital malformations,
causing severe physical disability in affected individuals. It is typically defined by the …
causing severe physical disability in affected individuals. It is typically defined by the …
High molecular diagnostic yields and novel phenotypic expansions involving syndromic anorectal malformations
R Belanger Deloge, X Zhao, PN Luna… - European Journal of …, 2023 - nature.com
Evidence suggests that genetic factors contribute to the development of anorectal
malformations (ARMs). However, the etiology of the majority of ARMs cases remains …
malformations (ARMs). However, the etiology of the majority of ARMs cases remains …
Spectrum of congenital anomalies among VACTERL cases: a EUROCAT population-based study
R van De Putte, IALM Van Rooij, CLM Marcelis… - Pediatric …, 2020 - nature.com
Abstract Background The VACTERL (Vertebral anomalies, Anal atresia, Cardiac
malformations, Tracheo-Esophageal fistula, Renal anomalies, Limb abnormalities) …
malformations, Tracheo-Esophageal fistula, Renal anomalies, Limb abnormalities) …