Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature | European Journal of Human Genetics
SHORT Syndrome. Rare Genetic Condition | Semantic Scholar
Short Syndrome-An Expanding Phenotype
Optimize outcomes for patients with short bowel syndrome - American Gastroenterological Association
Down Syndrom Symptoms stock vector. Illustration of disease - 107762543
Photographs of the individual with PKCe-SHORT syndrome. (A, B) | Download Scientific Diagram
SHORT syndrome in two Chinese girls: A case report and review of the literature - Zhang - 2020 - Molecular Genetics & Genomic Medicine - Wiley Online Library
A novel PIK3R1 mutation of SHORT syndrome in a Chinese female with diffuse thyroid disease: a case report and review of literature | BMC Medical Genetics | Full Text
Management of short bowel syndrome (SBS) - American Gastroenterological Association
What is Short Anagen Syndrome?'
The first SHORT syndrome in a Taiwanese boy: A case report and review of the literature - ScienceDirect
Figure 3 | Journal of Medical Genetics
Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome | BMC Medical Genetics | Full Text
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Down Syndrome: Signs, Symptoms, and Characteristics
MANUEL: Oligodontia, bone atrophy, short face syndrome - Bone reconstruction, dental implants - YouTube
PIK3R1 mutations in SHORT syndrome - Schroeder - 2014 - Clinical Genetics - Wiley Online Library
The SHORT syndrome: further delineation and natural history. | Journal of Medical Genetics
Williams Syndrome, Williams Beuren Syndrome: Causes, Symptoms & Treatment
Patient 1 with SHORT syndrome demonstrating short stature,... | Download Scientific Diagram
Microcephaly, short stature, and limb abnormality disorder due to novel autosomal biallelic DONSON mutations in two German siblings | European Journal of Human Genetics
Down Syndrome: Symptoms & Causes
SHORT syndrome in a two-year-old girl – case report | Italian Journal of Pediatrics | Full Text
WHAT IS SHORT BOWEL SYNDROME? - Nutrition 4 IBD
PDF) The SHORT syndrome: further delineation and natural history
Short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay: MedlinePlus Genetics
Aarskog-Scott syndrome: MedlinePlus Genetics
