Microphthalmia with Linear Skin Defects Syndrome Latest Advances

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

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.

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

Microphthalmia with Linear Skin Defects Syndrome Latest Advances

Find the Latest Research About Microphthalmia with Linear Skin Defects Syndrome

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.

B-cell precursor acute lymphoblastic leukemia in a girl with microphthalmia with linear skin defects syndrome.

B-cell precursor acute lymphoblastic leukemia in a girl with microphthalmia with linear skin defects syndrome.

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.

Extensive blaschkoid macules and patches since birth.

Extensive blaschkoid macules and patches since birth.

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.

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.

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

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

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.

Microphthalmia and linear skin defects syndrome: Precise diagnosis guides prognosis.

Microphthalmia and linear skin defects syndrome: Precise diagnosis guides prognosis.

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.

Microphthalmia with linear skin defects syndrome (MIDAS).

Microphthalmia with linear skin defects syndrome (MIDAS).

Linear skin defects and microphthalmia.

Linear skin defects and microphthalmia.