Angelman syndrome - Wikipedia
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Werner Syndrome: Causes, Symptoms, Treatment, and More
SHORT syndrome in a two-year-old girl – case report | Italian Journal of Pediatrics | Full Text
Prader-Willi Syndrome - Physiopedia
3-M syndrome: MedlinePlus Genetics
Frontiers | Genomic Diagnosis for Pediatric Disorders: Revolution and Evolution
Noonan syndrome: improving recognition and diagnosis | Archives of Disease in Childhood
Syndromes - The RASopathies Network
Noonan syndrome: MedlinePlus Genetics
Williams syndrome: diagnosis & support | Raising Children Network
Genes | Free Full-Text | Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring
PDF) The SHORT syndrome: further delineation and natural history
Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype | European Journal of Human Genetics
The Börjeson–Forssman–Lehman syndrome (BFLS, MIM #301900) | European Journal of Human Genetics
![Figure 1. [Facial features of SHORT syndrome...]. - GeneReviews® - NCBI Bookshelf](https://www.ncbi.nlm.nih.gov/books/NBK201365/bin/short-Image001.jpg "Figure 1. [Facial features of SHORT syndrome...]. - GeneReviews® - NCBI Bookshelf")
Figure 1. [Facial features of SHORT syndrome...]. - GeneReviews® - NCBI Bookshelf
Cureus | An Extremely Rare Case of Birk-Barel Syndrome With Severe Central Apneas | Article
Robinow syndrome: MedlinePlus Genetics
Focused Revision: ACMG practice resource: Genetic evaluation of short stature | Genetics in Medicine
![Figure 1. [Facial features of individuals with...]. - GeneReviews® - NCBI Bookshelf](https://www.ncbi.nlm.nih.gov/books/NBK560443/bin/mn1-ctt-Image001.jpg "Figure 1. [Facial features of individuals with...]. - GeneReviews® - NCBI Bookshelf")
Figure 1. [Facial features of individuals with...]. - GeneReviews® - NCBI Bookshelf
Genetic testing in the evaluation of individuals with clinical diagnosis of atypical Sturge–Weber syndrome - Yeom - 2023 - American Journal of Medical Genetics Part A - Wiley Online Library
Children | Free Full-Text | Recombinant Human Growth Hormone Therapy for Childhood Trichorhinophalangeal Syndrome Type I: A Case Report
The first SHORT syndrome in a Taiwanese boy: A case report and review of the literature - ScienceDirect
