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Last Updated: 03/06/2025

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Found 85 publications

Novel Intragenic and Genomic Variants Highlight the Phenotypic Variability in HCCS-Related Disease.

Novel Intragenic and Genomic Variants Highlight the Phenotypic Variability in HCCS-Related Disease.

Journal: Genes
Published: November 09, 2024

Translocation t(X;Y) characterized by chromosomal microarray and FISH in a phenotypic male with Microphthalmia and linear skin defects.

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.

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.

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.

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

Linear Skin Defects with Multiple Congenital Anomalies (LSDMCA): An Unconventional Mitochondrial Disorder.

Linear Skin Defects with Multiple Congenital Anomalies (LSDMCA): An Unconventional Mitochondrial Disorder.

Journal: Genes
Published: December 18, 2020

Microphthalmia with linear skin defects syndrome associated with hypopigmented mosaic lesions and ptosis: two siblings from Africa.

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.

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.

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).

Microphthalmia with linear skin defects syndrome (MIDAS).

Journal: BMJ case reports
Published: April 25, 2019

miR-181a/b downregulation exerts a protective action on mitochondrial disease models.

miR-181a/b downregulation exerts a protective action on mitochondrial disease models.

Journal: EMBO molecular medicine
Published: April 14, 2019

Linear skin defects and microphthalmia.

Linear skin defects and microphthalmia.

Journal: Clinical and experimental dermatology
Published: December 26, 2017
Showing 1-12 of 85

Last Updated: 03/06/2025