Top Tweets for #dysmorphism
Compound Heterozygous Variants in FAM111A Cause Autosomal Recessive Kenny-Caffey Syndrome Type 2 by Erdal Eren et al.
Link : https://t.co/LGx9KVSp3p
#Hypoparathyroidism #skeletal #dysplasia #osteocraniostenosis #shortstature #dysmorphism

π₯ A mum is looking for people affected by a mutation in exon 8 of the #KAT6B gene. Symptoms may include facial #dysmorphism, heart defects, and foot deformities.
Please, help us connect families in Share4Rare! βοΈ https://t.co/fBu0t2WtKu
#raredisease #raresyndrome

The #Noonan syndrome is a #RASopathy with phenotipic heterogeneity. Common features include #dysmorphism β¬οΈ stature and congenital heart disease. But persistent lymphatic dysplasia may also be present with lower limb #lymphoedema , intestinal #lymphangiectasia and #chylothorax

Ritscher-Schinzel syndrome is a #genetic #RareDisease and involves #craniofacial, #cardiac and fossa posterior abnormalities. We expand the phenotype to also include #epilepsy and discuss the #dysmorphism and minimal diagnostic criteria. @FiladelfiaGene1
https://t.co/NfvkR1k7CT
DISABILITY IN A MEDIEVAL VILLAGE COMMUNITY: A UNIQUE CASE OF FACIAL DYSMORPHISM from @archaeologyEAA https://t.co/Xj2QIvZqLB #archaeology #disability #medieval #dysmorphism
Research Paper on Orangutan (Pongo abelii)
https://t.co/UdvjgDoeS5
#Researchers #papers #literature #dysmorphism #anthropology
Looking at pictures of myself can send me into days of self-beatings, depression, and fear of being seen. BUT I like this pic if me. I feel good when I look at it. I'm calling this progress. #dysmorphism

Dr. Adnan Qureshi will be speaking about craniospinal #dysmorphism and #venous anomalies associated with #Chiari. #CSFcolloquium
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