Sihem Darouich
Tunis, Tunisia
Last Updated: 09/26/2026
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Found 23 publications
Biallelic Frameshift Variant in LAMB1 Associated with Occipital Meningoencephalocele and Pansutural Craniosynostosis: A Case Report and Review of the Literature.
Journal: Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
Published: August 13, 2026
Spondylocostal Dysostosis-1 Associated With Pancreatic Heterotopia: Coincidence or True Association?
Spondylocostal Dysostosis-1 Associated With Pancreatic Heterotopia: Coincidence or True Association?
Journal: Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
Published: January 13, 2026
A Cardiocraniofacial Syndrome Associated With a Novel Missense Variant in GATA6: A Fetal Case Report.
Journal: Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
Published: February 13, 2025
Bilateral Renal Fungal Bezoars and Perinephric Abscess in an Infant With Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome: A Clinico-pathologic Case Report.
Journal: Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
Published: January 25, 2025
CLPB Deficiency Associated Neonatal Cavitating Leukoencephalopathy: A Potential Pathomechanism Underlying Neurologic Disorder.
Journal: Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
Published: October 30, 2023
A novel homozygous variant in ATL1 associated with early onset spastic paraplegia 3A: Further evidence for autosomal recessive inheritance.
Journal: American journal of medical genetics. Part A
Published: August 10, 2023
Calloso-adreno-scrotal agenesis associated with biallelic MAPK-activating death domain protein (MADD) variant: Further phenotypic delineation of MADD deficiency.
Journal: American journal of medical genetics. Part A
Published: July 06, 2023
Severe Ciliopathy-Like Phenotype in an Infant With a Novel MPDU1 Missense Variant.
Journal: Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
Published: February 09, 2023
A severe clinicopathologic phenotype of RAF1 Ser257Leu neomutation in a preterm infant without cardiac anomaly.
Journal: American journal of medical genetics. Part A
Published: July 09, 2022
Tracheal Agenesis with Bronchoesophageal Fistula.
Journal: The New England journal of medicine
Published: March 03, 2021
Value of Placental Examination in the Diagnostic Evaluation of Stillbirth.
Journal: Fetal and pediatric pathology
Published: December 02, 2020
Fetal Skeletal Dysplasias: Radiologic-Pathologic Classification of 72 Cases.
Journal: Fetal and pediatric pathology
Published: June 20, 2020
Last Updated: 09/26/2026