BACKGROUND Kallmann syndrome (KS) is a genetic disorder associating pubertal failure
with congenitally absent or impaired sense of smell. KS is related to defective neuronal …

Abstract Pitt–Hopkins syndrome (PTHS), characterized by severe intellectual disability and
typical facial gestalt, is part of the clinical spectrum of Rett‐like syndromes. TCF4, encoding …

Molecular diagnosis of neurofibromatosis type 1 (NF1) is challenging owing to the large size
of the tumour suppressor gene NF1, and the lack of mutation hotspots. A somatic alteration …

Objective To compare the clinical features of patients showing a classical phenotype of
facioscapulohumeral muscular dystrophy (FSHD) with genetic and epigenetic characteristics …

Background Heterozygous NSD1 mutations were identified in 60%–90% of patients with
Sotos syndrome. Recently, mutations of the SETD2 and DNMT3A genes were identified in …

The commonest tumors associated with neurofibromatosis type 1 (NF1) are benign
peripheral nerve sheath tumors, called neurofibromas. Malignant transformation of …

Background Clinical overlap between neurofibromatosis type 2 (NF2), schwannomatosis,
and meningiomatosis can make clinical diagnosis difficult. Hence, molecular investigation of …

Mowat–Wilson syndrome (MWS) is a severe intellectual disability (ID)-distinctive facial
gestalt-multiple congenital anomaly syndrome, commonly associating microcephaly …

Simple Summary Neurofibromatosis type 1 (NF1) is a genetic disorder caused by
pathogenic variants in the NF1 tumor suppressor gene. In 5–10% of NF1 patients, a large …

Variants in KMT2A, encoding the histone methyltransferase KMT2A, are a growing cause of
intellectual disability (ID). Up to now, the majority of KMT2A variants are non-sense and …