Extensive Phenotypic Variability in Syndrome Dysmorphic Facies, Renal Agenesis, Ambiguous Genitalia, Microcephaly, Polydactyly, and Lissencephaly (DREAM-PL): A Case Report Highlighting Diagnostic and Management Challenges-Reference-Cited by-同舟云学术

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Extensive Phenotypic Variability in Syndrome Dysmorphic Facies, Renal Agenesis, Ambiguous Genitalia, Microcephaly, Polydactyly, and Lissencephaly (DREAM-PL): A Case Report Highlighting Diagnostic and Management Challenges

Published:2024-02-12 Issue: Volume: Page:
ISSN:2168-8184
Container-title:Cureus
language:en
Short-container-title:

Author:

Shaaban Amin I,Lotfy Fikry M,Alharbi Mussaed S,Zaky Ahmed F,Al Sari Rand R,Mattar Rakan K,Al Mubarak Hussain A,Jama Amaal,Mousa Shahad M,Borah Nagham A,Alshami Fatimah M,Afandy Futoon F,Fadda Sahar H

Publisher

Springer Science and Business Media LLC

Reference7 articles.

1. Prenatal exome sequencing and chromosomal microarray analysis in fetal structural anomalies in a highly consanguineous population reveals a propensity of ciliopathy genes causing multisystem phenotypes;Al-Hamed MH;Hum Genet,2022

2. The cytosolic thiouridylase CTU2 of Arabidopsis thaliana is essential for posttranscriptional thiolation of tRNAs and influences root development;Philipp M;BMC Plant Biol,2014

3. Identification of genes that protect the C. elegans genome against mutations by genome-wide RNAi;Pothof J;Genes Dev,2003

4. P241: expanding the phenotype of DREAM-PL: a case report;Mahoney D;Genet Med Open,2023

5. The syndrome dysmorphic facies, renal agenesis, ambiguous genitalia, microcephaly, polydactyly and lissencephaly (DREAM-PL): Report of two additional patients;Shaheen R;Am J Med Genet A,2016

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