✦ LIBER ✦

Unsuspected mutation in a family with congenital adrenal hyperplasia

✍ Scribed by Oriola, Josep; Pavia, Carles

Publisher: John Wiley and Sons
Year: 1997
Tongue: English
Weight: 5 KB
Volume: 71
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19970808)71:2<249::aid-ajmg29>3.0.co;2-d

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Novel mutation of theDAX1 gene in a pati

Novel mutation of theDAX1 gene in a patient with X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism

✍ Hamaguchi, Kazuyuki; Arikawa, Masaya; Yasunaga, Seikoh; Kakuma, Tetsuya; Fukagaw 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 33 KB 👁 1 views

## X-linked adrenal hypoplasia congenita (AHC) is characterized by primary adrenal insufficiency and is frequently associated with hypogonadotropic hypogonadism (HHG). Mutations of the DAX1 gene have been reported in patients with AHC and HHG. We found a novel DAX1 mutation in our patient. Sequenc

Prenatal diagnosis of congenital adrenal

Prenatal diagnosis of congenital adrenal hyperplasia (21-hydroxylase deficiency) in Croatia

✍ Dumic, M.; Brkljacic, L.; Plavsic, V.; Zunec, R.; Ille, J.; Wilson, R. C.; Kuvac 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 71 KB 👁 1 views

We report on the prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase in 20 at-risk pregnancies (16 salt-wasting and 4 simple virilizing families). We have diagnosed 3 affected fetuses (2 males and 1 female), 3 healthy homozygotes (2 males and 1 female), and 14 healthy heterozy

Novel missense mutation (Leu466Arg) of t

Novel missense mutation (Leu466Arg) of theDAX1 gene in a patient with X-linked congenital adrenal hypoplasia

✍ Abe, Shuji; Nakae, Jun; Yasoshima, Kouichi; Tajima, Toshihiro; Shinohara, Nozomi 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 17 KB 👁 2 views

We identified a DAX1 missense mutation, a substitution of arginine for leucine at codon 466 (Leu466Arg), in an infant with X-linked congenital adrenal hypoplasia (AHC). A heterozygous substitution, Leu466Arg, was also identified in his mother and sister. Since leucine at position 466 is well conserv

Autosomal recessive congenital cerebella

Autosomal recessive congenital cerebellar hypoplasia and short stature in a large inbred family

✍ M�garban�, Andr�; Delague, Val�rie; Salem, Nabiha; Loiselet, Jacques 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 29 KB

Nonprogressive cerebellar hypoplasia was first described by Norman [1940]. It is characterized by nonprogressive ataxia, delay in language acquisition, persistent dysarthria, strabismus, hypotonia, and mental retardation. Neuroimaging demonstrates cerebellar atrophy affecting the vermis and/or hemis

Familial migraine with vertigo: No mutat

Familial migraine with vertigo: No mutations found in CACNA1A

✍ Kim, Ji-Soo; Yue, Qing; Jen, Joanna C.; Nelson, Stanley F.; Baloh, Robert W. 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 15 KB 👁 1 views

We searched for mutations in the voltagegated calcium channel gene, CACNA1A, in nine propositi of families with migraine headaches and episodic vertigo inherited in an autosomal dominant pattern. All 47 exons and flanking introns in CACNA1A were subjected to single-strand conformation polymorphism a

Jagged1 mutations in patients ascertaine

Jagged1 mutations in patients ascertained with isolated congenital heart defects

✍ Krantz, Ian D.; Smith, Rosemarie; Colliton, Ray P.; Tinkel, Hilary; Zackai, Elai 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 30 KB 👁 1 views

Mutations in Jagged1 cause Alagille syndrome (AGS), a pleiotropic disorder with involvement of the liver, heart, skeleton, eyes, and facial structures. Cardiac defects are seen in more than 95% of AGS patients. Most commonly these are right-sided defects ranging from mild peripheral pulmonic stenosi