✦ LIBER ✦

Hypogonadotrophic hypogonadism with hyposmia, X-linked ichthyosis, and renal malformation syndrome

✍ Scribed by P. Martul; J. Plneda; J. Levllllers; J. A. Vszquez; J. Rodriguez-Soriano; L. Loridan; J. L. Diaz-Perez

Book ID: 114720128
Publisher: John Wiley and Sons
Year: 1995
Tongue: English
Weight: 956 KB
Volume: 42
Category: Article
ISSN: 0300-0664
DOI: 10.1111/j.1365-2265.1995.tb01851.x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A family with X-linked ichthyosis and hy

A family with X-linked ichthyosis and hypogonadism

✍ M. G. Pike; M. Hammerton; J. Edge; D. J. Atherton; D. B. Grant 📂 Article 📅 1989 🏛 Springer 🌐 English ⚖ 238 KB

X-linked ichthyosis due to steroid sulfa

X-linked ichthyosis due to steroid sulfatase deficiency associated with hypogonadism and anosmia

✍ G. Andria; A. Ballabio; G. Parenti 📂 Article 📅 1987 🏛 John Wiley and Sons 🌐 English ⚖ 129 KB

Deletions of the steroid sulphatase gene

Deletions of the steroid sulphatase gene in “classical” X-linked ichthyosis and in X-linked ichthyosis associated with Kallmann syndrome

✍ A. Ballabio; G. Sebastio; R. Carrozzo; G. Parenti; A. Piccirillo; M. G. Persico; 📂 Article 📅 1987 🏛 Springer 🌐 English ⚖ 626 KB

We have studied 16 men, from 10 unrelated Italian families, affected by steroid suphatase (STS) deficiency, which is the basic defect of X-linked ichthyosis (XLI). The patients' clinical diagnoses were of either isolated ichthyosis or ichthyosis associated with Kallmann syndrome (KS) (hypogonadotrop

Seminiferous tubule function in delayed-

Seminiferous tubule function in delayed-onset X-linked adrenal hypoplasia congenita associated with incomplete hypogonadotrophic hypogonadism

✍ Ignacio Bergadá; Luz Andreone; Patricia Bedecarrás; María Gabriela Ropelato; Sil 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 202 KB

Mutation of GJB2 in a Chinese patient wi

Mutation of GJB2 in a Chinese patient with keratitis–ichthyosis–deafness syndrome and brain malformation

✍ X.-B. Zhang; S.-C. Wei; C.-X. Li; X. Xu; Y.-Q. He; Q. Luo; J. Li; Y.-F. Wang 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 474 KB

X-linked ichthyosis, due to steroid sulp

X-linked ichthyosis, due to steroid sulphatase deficiency, associated with Kallmann syndrome (hypogonadotropic hypogonadism and anosmia): linkage relationships with Xg and cloned DNA sequences from the distal short arm of the X chromosome

✍ A. Ballabio; G. Parenti; P. Tippett; C. Mondello; S. Maio; A. Tenore; G. Andria 📂 Article 📅 1986 🏛 Springer 🌐 English ⚖ 486 KB

We report a large Italian pedigree in which five out of six males are affected by a syndrome, following an X-linked inheritance pattern, characterized by ichthyosis, hypogonadotropic hypogonadism, and anosmia. The concurrence of features of X-linked ichthyosis (XLI) with those of Kallmann syndrome,