Lenz Microphthalmia Syndrome Latest Advances

New mutation in the β1 propeller domain of LRP4 responsible for congenital myasthenic syndrome associated with Cenani-Lenz syndrome.

Journal: Scientific reports

Published: April 03, 2023

Lenz microphthalmia syndrome in neurosurgical practice: a case report and review of the literature.

Journal: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery

Published: December 01, 2020

Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15.

Journal: Human molecular genetics

Published: February 04, 2019

NAA10 polyadenylation signal variants cause syndromic microphthalmia.

Journal: Journal of medical genetics

Published: October 25, 2018

Identification of novel pathogenic variants and novel gene-phenotype correlations in Mexican subjects with microphthalmia and/or anophthalmia by next-generation sequencing.

Journal: Journal of human genetics

Published: May 29, 2018

Microphthalmia is not a mandatory finding in X-linked recessive syndromic microphthalmia caused by the recurrent BCOR variant p.Pro85Leu.

Journal: American journal of medical genetics. Part A

Published: April 16, 2018

Induction of Immune Surveillance of the Dysmorphogenic Lens.

Journal: Scientific reports

Published: July 14, 2017

NAA10 mutation causing a novel intellectual disability syndrome with Long QT due to N-terminal acetyltransferase impairment.

Journal: Scientific reports

Published: June 29, 2015

Novel BCOR mutation in a boy with Lenz microphthalmia/oculo-facio-cardio-dental (OFCD) syndrome.

Journal: Gene

Published: March 31, 2015

A splice donor mutation in NAA10 results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndrome.

Journal: Journal of medical genetics

Published: January 17, 2014

Lenz micropthalmia syndrome with associated orbital cysts.

Journal: Ophthalmic plastic and reconstructive surgery

Published: October 18, 2013

Prenatal diagnosis of X-linked recessive Lenz microphthalmia syndrome.

Journal: The journal of obstetrics and gynaecology research

Published: November 28, 2012

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New mutation in the β1 propeller domain of LRP4 responsible for congenital myasthenic syndrome associated with Cenani-Lenz syndrome.

New mutation in the β1 propeller domain of LRP4 responsible for congenital myasthenic syndrome associated with Cenani-Lenz syndrome.

Lenz microphthalmia syndrome in neurosurgical practice: a case report and review of the literature.

Lenz microphthalmia syndrome in neurosurgical practice: a case report and review of the literature.

Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15.

Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15.

NAA10 polyadenylation signal variants cause syndromic microphthalmia.

NAA10 polyadenylation signal variants cause syndromic microphthalmia.

Identification of novel pathogenic variants and novel gene-phenotype correlations in Mexican subjects with microphthalmia and/or anophthalmia by next-generation sequencing.

Identification of novel pathogenic variants and novel gene-phenotype correlations in Mexican subjects with microphthalmia and/or anophthalmia by next-generation sequencing.

Microphthalmia is not a mandatory finding in X-linked recessive syndromic microphthalmia caused by the recurrent BCOR variant p.Pro85Leu.

Microphthalmia is not a mandatory finding in X-linked recessive syndromic microphthalmia caused by the recurrent BCOR variant p.Pro85Leu.

Induction of Immune Surveillance of the Dysmorphogenic Lens.

Induction of Immune Surveillance of the Dysmorphogenic Lens.

NAA10 mutation causing a novel intellectual disability syndrome with Long QT due to N-terminal acetyltransferase impairment.

NAA10 mutation causing a novel intellectual disability syndrome with Long QT due to N-terminal acetyltransferase impairment.

Novel BCOR mutation in a boy with Lenz microphthalmia/oculo-facio-cardio-dental (OFCD) syndrome.

Novel BCOR mutation in a boy with Lenz microphthalmia/oculo-facio-cardio-dental (OFCD) syndrome.

A splice donor mutation in NAA10 results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndrome.

A splice donor mutation in NAA10 results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndrome.

Lenz micropthalmia syndrome with associated orbital cysts.

Lenz micropthalmia syndrome with associated orbital cysts.

Prenatal diagnosis of X-linked recessive Lenz microphthalmia syndrome.

Prenatal diagnosis of X-linked recessive Lenz microphthalmia syndrome.