Skeletal Dysplasia, Global Developmental Delay, and Multiple Congenital Anomalies in a 5-Year-Old Boy-Report of the Second Family withB3GAT3mutation and Expansion of the Phenotype

American Journal of Medical Genetics, Part A - United States
doi 10.1002/ajmg.a.36487
Full Text
Abstract

Available in full text

Categories
Genetics
Date
Authors
Publisher

Wiley

Related search

Congenital Methemoglobinemia Type II in a 5-Year-Old Boy

Clinical Case Reports
Medicine
2017English

A 13-Year-Old Caucasian Boy With Cleidocranial Dysplasia: A Case Report

BMC Research Notes
BiochemistryMedicineGeneticsMolecular Biology
2013English

Training Play Behavior in a 5-Year-Old Boy With Developmental Disabilities.

Journal of Applied Behavior Analysis
Applied PsychologyPhilosophySociologyPolitical Science
2003English

Eosinophilic Fasciitis in a 5-Year-Old Boy

Reumatologia
RheumatologyAllergyImmunology
2013English

Multiple Congenital Polyps of the Verumontanum in a Boy: A Case Report

Pediatric Urology Case Reports
2019English

A Rare Case of Anhidrotic Ectodermal Dysplasia in a Six-Year-Old Boy

International Journal of Case Reports and Images
2016English

Another “Multiple Congenital Anomalies” Syndrome - The W. Family

Pediatric Research
Child HealthPediatricsPerinatology
1974English

Multiple Tender, Deep Nodules on the Legs of a Seven-Year-Old Boy

2018English

Mosaic Trisomy 22 in a 4-Year-Old Boy With Congenital Heart Disease and General Hypotrophy: A Case Report

Journal of Clinical Laboratory Analysis
AllergyImmunologyBiochemistryPublic HealthMedical Laboratory TechnologyClinical BiochemistryHematologyMicrobiologyEnvironmentalOccupational Health
2018English

Amanote Research

Note-taking for researchers

Follow Amanote

© 2025 Amaplex Software S.P.R.L. All rights reserved.

Privacy PolicyRefund Policy