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Last Updated: 10/31/2025

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Found 134 publications

Arterial stroke in a child with Seckel syndrome with a pattern of non-moyamoya vasculopathy.

Arterial stroke in a child with Seckel syndrome with a pattern of non-moyamoya vasculopathy.

Journal: Clinical case reports
Published: February 16, 2024

Microcephaly, Short Stature, Intellectual Disability, Speech Absence and Cataract Are Associated with Novel Bi-Allelic Missense Variant in RTTN Gene: A Seckel Syndrome Case Report.

Microcephaly, Short Stature, Intellectual Disability, Speech Absence and Cataract Are Associated with Novel Bi-Allelic Missense Variant in RTTN Gene: A Seckel Syndrome Case Report.

Journal: Children (Basel, Switzerland)
Published: April 30, 2023

Two novel variants in CEP152 caused Seckel syndrome 5 in a Chinese family.

Two novel variants in CEP152 caused Seckel syndrome 5 in a Chinese family.

Journal: Frontiers in genetics
Published: September 24, 2022

Expanding the phenotype of Seckel syndrome associated with biallelic loss-of-function variants in CEP63.

Expanding the phenotype of Seckel syndrome associated with biallelic loss-of-function variants in CEP63.

Journal: American journal of medical genetics. Part A
Published: August 19, 2022

Expression Analyses of Polo-Like Kinase 4, a Gene Product Responsible for Autosomal Recessive Microcephaly and Seckel Syndrome, during Mouse Brain Development.

Expression Analyses of Polo-Like Kinase 4, a Gene Product Responsible for Autosomal Recessive Microcephaly and Seckel Syndrome, during Mouse Brain Development.

Journal: Developmental neuroscience
Published: July 04, 2022

Hydranencephaly in CENPJ-related Seckel syndrome.

Hydranencephaly in CENPJ-related Seckel syndrome.

Journal: European journal of medical genetics
Published: June 01, 2022

Central precocious puberty with hypothalamic hamartoma: the first case reports of 2 siblings with different phenotypes of Seckel syndrome 5.

Central precocious puberty with hypothalamic hamartoma: the first case reports of 2 siblings with different phenotypes of Seckel syndrome 5.

Journal: Annals of pediatric endocrinology & metabolism
Published: February 24, 2022

A novel leaky splice variant in centromere protein J (CENPJ)-associated Seckel syndrome.

A novel leaky splice variant in centromere protein J (CENPJ)-associated Seckel syndrome.

Journal: Annals of human genetics
Published: December 07, 2021

Secondary Childhood glaucoma - a rare association in Seckel syndrome.

Secondary Childhood glaucoma - a rare association in Seckel syndrome.

Journal: European journal of ophthalmology
Published: November 23, 2021

Cardiovascular anomalies in Seckel syndrome: report of two patients and review of the literature.

Cardiovascular anomalies in Seckel syndrome: report of two patients and review of the literature.

Journal: Cardiology in the young
Published: August 13, 2021

Seckel syndrome presenting with complete heart block.

Seckel syndrome presenting with complete heart block.

Journal: Proceedings (Baylor University. Medical Center)
Published: May 06, 2021

Prenatal ultrasound diagnosis of Seckel syndrome with bi-allelic variant in TRAIP via exome sequencing.

Prenatal ultrasound diagnosis of Seckel syndrome with bi-allelic variant in TRAIP via exome sequencing.

Journal: Journal of clinical ultrasound : JCU
Published: March 27, 2021
Showing 1-12 of 134

Last Updated: 10/31/2025