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Primordial dwarfism: overview of clinical and genetic aspects
- https://www.ncbi.nlm.nih.gov/pubmed/26323792
Primordial Dwarfism: Life Expectancy, Pictures, …
- https://www.healthline.com/health/primordial-dwarfism
Mechanisms and pathways of growth failure in primordial …
- https://pubmed.ncbi.nlm.nih.gov/21979914/
- Primordial dwarfism is a group of human single-gene disorders with extreme global growth failure (which includes Seckel syndrome, microcephalic osteodysplastic …
Primordial dwarfism: overview of clinical and genetic …
- https://link.springer.com/article/10.1007/s00438-015-1110-y
- Primordial dwarfism is a group of genetic disorders which include Seckel Syndrome, Silver–Russell Syndrome, Microcephalic Osteodysplastic Primordial …
PRIM1 deficiency causes a distinctive primordial …
- https://pubmed.ncbi.nlm.nih.gov/33060134/
- PRIM1 protein levels were markedly reduced in patient cells, accompanied by replication fork asymmetry, increased interorigin distances, replication stress, and …
Primordial dwarfism: an update - PubMed
- https://pubmed.ncbi.nlm.nih.gov/25490023/
- These genetic discoveries have confirmed the notion that primordial dwarfism is caused by defects in basic cellular processes, most notably centriolar biology and DNA damage …
Primordial Dwarfism: Life Expectancy, …
- https://www.verywellhealth.com/primordial-dwarfism-2860989
- Overview of Primordial Dwarfism Primordial Dwarfism at Birth. At birth, an infant with primordial dwarfism will be very small, usually weighing less... Types of …
Microcephalic Osteodysplastic Primordial Dwarfism, …
- https://pubmed.ncbi.nlm.nih.gov/28409412/
- Abstract Purpose of the review: This review will provide an overview of the microcephalic primordial dwarfism (MPD) class of disorders and provide the reader comprehensive …
Dwarfism - Symptoms and causes - Mayo Clinic
- https://www.mayoclinic.org/diseases-conditions/dwarfism/symptoms-causes/syc-20371969
- Overview. Dwarfism is short stature that results from a genetic or medical condition. Dwarfism is generally defined as an adult height of 4 feet 10 inches (147 …
Primordial Dwarfism Registry - Full Text View
- https://clinicaltrials.gov/ct2/show/NCT04569149
- The goal of this registry is to collect information on individuals with Microcephalic Osteodysplastic Primordial Dwarfism Type II (also called MOPDII) …
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