𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Prenatal diagnosis of Sanfilippo type A syndrome in a family with S66W mutant allele

✍ Scribed by Paola Di Natale; Guglielmo R. D. Villani; Sabrina Esposito; Nicola Balzano; Mirella Filocamo; Rosanna Gatti


Publisher
John Wiley and Sons
Year
1999
Tongue
English
Weight
133 KB
Volume
19
Category
Article
ISSN
0197-3851

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


First prenatal diagnosis by mutation ana
✍ A. Sillén; G. Holmgren; C. Wadelius 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 33 KB 👁 1 views

Sjögren-Larsson syndrome (SLS) is a rare, autosomal recessive disorder characterized by congenital ichthyosis, mental retardation, and spastic diplegia or tetraplegia. The disorder has the highest incidence in the north of Sweden and most of the cases are caused by a C943T mutation in the FALDH gene

Prenatal diagnosis in a family with seve
✍ Volker Schuster; Silvia Seidenspinner; Clemens Müller; Andreas Rempen 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 190 KB

Severe type I plasminogen deficiency may cause severe ligneous conjunctivitis, a rare and unusual form of chronic pseudo-membranous conjunctivitis that usually starts in early infancy, but also pseudo-membranous lesions of other mucous membranes in the mouth, nasopharynx, trachea and female genital

Hydrolethalus syndrome in a non-Finnish
✍ T. J. L. de Ravel; M. C. van der Griendt; P. Evan; C. A. Wright 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 162 KB 👁 1 views

We present a family in which the first affected child presented with a 'milder' form of the hydrolethalus syndrome and survived to seven months, and two subsequent pregnancies with typical features detected early by ultrasound evaluation. We propose that the 'milder' cases are indeed true cases of t

Prenatal diagnosis by FISH in a family w
✍ Karen Woodward; Rodger Palmer; Kathleen Rao; Sue Malcolm 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 161 KB 👁 1 views

A diagnosis of Pelizaeus-Merzbacher disease (MIM 312080) was made in a young boy. No mutation in the coding region of the proteolipid protein (PLP) gene had been found. The boy's maternal aunt came for prenatal diagnosis when 16+ weeks pregnant and carrying a male fetus. Samples were tested for dupl

A compound heterozygote patient with Ehl
✍ Birgitta Pousi; Timo Hautala; James C. Hyland; Jukka Schröter; Beate Eckes; Kari 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 229 KB 👁 1 views

We report the first deletion mutation and the first splicing defect in the lysyl hydroxylase gene in a compound heterozygote patient with Ehlers-Danlos syndrome type VI with markedly reduced lysyl hydroxylase activity. Northern analysis of the RNA isolated from skin fibroblasts of the patient demons

Prenatal diagnosis of Smith–Lemli–Opitz
✍ D. P. Bick,; D. McCorkle; W. S. Stanley; H. J. Stern; P. Staszak; G. D. Berkovit 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 153 KB 👁 2 views

A cytogenetically normal male fetus was subsequently found to have female external genitalia, a cardiac malformation and mid-trimester intra-uterine growth retardation by ultrasound examination. The maternal serum oestriol level was low. The combination of low oestriol and sonographic findings sugge