» Articles » PMID: 5465362

Familial Hyperphosphatase with Mental Retardation, Seizures, and Neurologic Deficits

Overview
Journal J Pediatr
Specialty Pediatrics
Date 1970 Jul 1
PMID 5465362
Citations 23
Authors
Affiliations
Soon will be listed here.
Citing Articles

Two Different Brain Injury Patterns Associated with Compound Heterozygosis of the PIGO Gene in a Term Newborn: A Case Report.

Dellepiane F, Moltoni G, Ronci S, Guarnera A, Rossi-Espagnet M, Digilio M Biomedicines. 2025; 12(12.

PMID: 39767685 PMC: 11673543. DOI: 10.3390/biomedicines12122779.


A case report of -related hyperphosphatasia with impaired intellectual development syndrome in a Chinese family and literature review.

Pan Y, Ren B, Chen L, Li Q Front Pediatr. 2024; 12:1419976.

PMID: 39687712 PMC: 11646758. DOI: 10.3389/fped.2024.1419976.


Innovations in Phenotyping and Diagnostics Create Opportunities for Improved Treatment and Genetic Counseling for Rare Diseases.

Thompson M Genes (Basel). 2024; 15(6).

PMID: 38927651 PMC: 11203049. DOI: 10.3390/genes15060715.


Spectrum of Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 (MCAHS3) Due to Phosphatidylinositol Glycan Biosynthesis Class T (PIGT) Gene Mutations: A Narrative Review.

Ranjan A, Alam M, Kumar V, Kumar R, Saifullah K, Fakih S Cureus. 2024; 16(5):e60737.

PMID: 38903302 PMC: 11187727. DOI: 10.7759/cureus.60737.


Rare Genetic Developmental Disabilities: Mabry Syndrome (MIM 239300) Index Cases and Glycophosphatidylinositol (GPI) Disorders.

Thompson M, Knaus A Genes (Basel). 2024; 15(5.

PMID: 38790248 PMC: 11121671. DOI: 10.3390/genes15050619.