RAS GTPases mediate a wide variety of cellular functions, including cell proliferation, survival,
and differentiation. Recent studies have revealed that germline mutations and mosaicism …

Mullerian-inhibiting substance (MIS) is a gonadal hormone synthesized by Sertoli cells of
the testis and granulosa cells of the ovary. To facilitate the use of MIS for the evaluation of …

Steroidogenic acute regulatory protein (StAR) is essential for adrenal and gonadal
steroidogenesis, stimulating the translocation of cholesterol to the inner mitochondrial membrane …

We report on GATA3 analysis and the phenotypic spectrum in nine Japanese families with
the HDR syndrome (hypoparathyroidism, sensorineuraldeafness, andrenal dysplasia) (MIM …

Context: Although the “backdoor” pathway to dihydrotestosterone has been postulated in the
fetal-to-early-infantile period of patients with cytochrome P450 oxidoreductase deficiency (…

Context: Inborn errors of thyroid hormone biosynthesis are collectively referred to as thyroid
dyshormonogenesis (DH). Seven genes have been implicated in DH, including the dual …

Context: C-type natriuretic peptide-natriuretic peptide receptor B (NPR-B) signaling is critical
for endochondral ossification, which is responsible for longitudinal growth in limbs and …

We report on PTPN11 (protein-tyrosine phosphatase, nonreceptor type 11) mutation analysis
and clinical assessment in 45 patients with Noonan syndrome. Sequence analysis was …

We report on the clinical and molecular findings in 25 males and three females with Kallmann
syndrome (KS) aged 10–53 yr. Ten males were from five families, and the remaining 15 …

Adrenal hypoplasia is a rare, life-threatening congenital disorder. Here we define a new
form of syndromic adrenal hypoplasia, which we propose to term MIRAGE (myelodysplasia, …