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Last Updated: 01/07/2026
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Found 84 publications
Novel Intragenic and Genomic Variants Highlight the Phenotypic Variability in HCCS-Related Disease.
Journal: Genes
Published: November 09, 2024
B-cell precursor acute lymphoblastic leukemia in a girl with microphthalmia with linear skin defects syndrome.
Journal: Pediatrics international : official journal of the Japan Pediatric Society
Published: June 07, 2024
Translocation t(X;Y) characterized by chromosomal microarray and FISH in a phenotypic male with Microphthalmia and linear skin defects.
Journal: Clinical dysmorphology
Published: December 01, 2023
Extensive blaschkoid macules and patches since birth.
Journal: JAAD case reports
Published: December 12, 2022
Variable phenotype of secondary congenital corneal opacities associated with microphthalmia with linear skin defects syndrome.
Journal: American journal of medical genetics. Part A
Published: September 01, 2022
Multilevel Stabilization Screws Prevent Proximal Junctional Failure and Kyphosis in Adult Spinal Deformity Surgery: A Comparative Cohort Study.
Journal: Operative neurosurgery (Hagerstown, Md.)
Published: March 02, 2021
Microphthalmia with linear skin defects syndrome associated with hypopigmented mosaic lesions and ptosis: two siblings from Africa.
Journal: International journal of dermatology
Published: September 19, 2019
Microphthalmia and linear skin defects syndrome: Precise diagnosis guides prognosis.
Journal: Pediatric dermatology
Published: August 03, 2019
Microphthalmia, Linear Skin Defects, Callosal Agenesis, and Cleft Palate in a Patient with Deletion at Xp22.3p22.2.
Journal: Journal of pediatric genetics
Published: June 17, 2019
Microphthalmia with linear skin defects syndrome (MIDAS).
Journal: BMJ case reports
Published: April 25, 2019
Linear skin defects and microphthalmia.
Journal: Clinical and experimental dermatology
Published: December 26, 2017
Last Updated: 01/07/2026