LEOPARD syndrome (LS, OMIM 151100) is a rare multiple congenital anomalies condition,
mainly characterized by skin, facial and cardiac anomalies. LEOPARD is an acronym for the …

Aphids are economically important insect pests of agriculture and forest crops. They feed on
phloem sap by extremely efficient mouthparts modified into long and flexible stylets. …

Diagnosis of a chromosome 22q11.2 microdeletion and its associated deletion syndrome (22q11.2DS)
is optimally made early. We reviewed the available literature to provide …

Abstract Analysis of 786 NF1 mutation-positive subjects with clinical diagnosis of neurofibromatosis
type 1 (NF1) allowed to identify the heterozygous c. 5425C> T missense variant (p. …

RASopathies, a family of disorders characterized by cardiac defects, defective growth, facial
dysmorphism, variable cognitive deficits and predisposition to certain malignancies, are …

A12-year-old boy currently is followed by multiple subspecialists for problems caused by the
chromosome 22q11. 2 deletion syndrome (22q11DS)(Figure). He was born via …

Noonan syndrome is a developmental disorder characterized by short stature, facial
dysmorphia, congenital heart defects and skeletal anomalies 1 . Increased RAS-mitogen-activated …

Two out of 47 patients with sporadic tetralogy of Fallot (TOF), the most common cyanotic
conotruncal heart defect (CTD), showed heterozygous missense mutations of the ZFPM2/FOG2 …

Multiple-lentigines (ML)/LEOPARD (multiple lentigines, electrocardiographic-conduction
abnormalities, ocular hypertelorism, pulmonary stenosis, abnormal genitalia, retardation of …

Kabuki syndrome (KS) is a rare genetic disease that causes developmental delay and congenital
anomalies. Since the identification of MLL2 mutations as the primary cause of KS, such …