X-linked intellectual disability (XLID) is a clinically and genetically heterogeneous disorder.
During the past two decades in excess of 100 X-chromosome ID genes have been …

The prevalence of hypophosphatasia (HP), a rare metabolic disorder due to loss‐of‐function
mutations in the ALPL gene, has never been estimated in the European population. Only …

Background: Cystic fibrosis (CF) is caused by compound heterozygosity or homozygosity of
CF transmembrane conductance regulator gene (CFTR) mutations. Phenotypic variability …

Hypophosphatasia (HPP) is caused by pathogenic variants in the ALPL gene. There is a
large continuum in the severity, ranging from a lethal perinatal form to dental issues. We …

Bardet-Biedl syndrome (BBS) is a multisystemic disorder characterized by postaxial
polydactyly, progressive retinal dystrophy, obesity, hypogonadism, renal dysfunction, and …

Background: Spinal muscular atrophy (SMA) is caused by homozygous inactivation of the
SMN1 gene. The SMN2 copy number modulates the severity of SMA. The 0SMN1/1SMN2 …

Hypophosphatasia (HPP) is a rare inherited skeletal dysplasia due to loss of function
mutations in the ALPL gene. The disease is subject to an extremely high clinical …

The frequency of 12 different mutations of the steroid 21‐hydroxylase gene (CYP21) was
investigated in 129 French patients affected by congenital adrenal hyperplasia (CAH) due to …

OBJECTIVE: Fetal hyperechogenic bowel is associated with a variety of conditions, the
incidence of which has yet to be studied. STUDY DESIGN: The outcomes of 182 cases of …

Hypophosphatasia (HPP) is a rare inherited metabolic bone disease due to a deficiency of
the tissue nonspecific alkaline phosphatase isoenzyme (TNSALP) encoded by the ALPL …