Hereditary hemorrhagic telangiectasia (HHT) is a genetically and clinically heterogeneous
multisystem vascular dysplasia. Mutations of the endoglin and ACVRL1 genes are known to …

The genetic basis of most conditions characterized by congenital contractures is largely
unknown. Here we show that mutations in the embryonic myosin heavy chain (MYH3) gene …

Activating mutations of FGFR3, a negative regulator of bone growth, are well known to cause
a variety of short-limbed bone dysplasias and craniosynostosis syndromes. We mapped …

Mutations in TBX5, a T-box–containing transcription factor, cause cardiac and limb
malformations in individuals with Holt-Oram syndrome (HOS). Mutations that result in …

Trismus‐pseudocamptodactyly syndrome (TPS) is a rare autosomal dominant distal
arthrogryposis (DA) characterized by an inability to open the mouth fully (trismus) and an unusual …

Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized
by contractures of the distal joints of the limbs, triangular face, downslanting palpebral …

Multiple myeloma (MM) is a neoplasm characterized by proliferation of clonal plasma cells (PCs)
and a combination of clinical manifestations. Flow cytometry is an important method for …

Trisomy 12 mosaicism is a rare condition. Herein, we report a patient with mosaic trisomy 12
who was conceived by in vitro fertilization. She presented with mild dysmorphic features at …

With contemporary multiagent chemotherapy regimens, event-free survival rates for children
with T-cell acute lymphoblastic leukemia (T-ALL) exceed 85%, paralleling those observed …

Chronic myelomonocytic leukemia (CMML) is a rare malignant neoplasm of the blood-forming
cells in bone marrow characterized by persistent monocytosis. Although most patients …