✦ LIBER ✦

Johnson-McMillin syndrome: Report of another family

✍ Scribed by Bankier, Agnes ;Rose, Catherine M.

Publisher: John Wiley and Sons
Year: 1994
Tongue: English
Weight: 77 KB
Volume: 52
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320520419

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Johnson-McMillin syndrome: Report of ano

Johnson-McMillin syndrome: Report of another family

✍ Hennekam, Raoul C. M. ;Holtus, Frank J. A. M. 📂 Article 📅 1993 🏛 John Wiley and Sons 🌐 English ⚖ 266 KB 👁 1 views

Johnson-McMillin syndrome: Report of a n

Johnson-McMillin syndrome: Report of a new case with novel features

✍ Lisa J. Cushman; Wilfredo Torres-Martinez; David D. Weaver 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 107 KB 👁 1 views

## Abstract ## BACKGROUND Johnson‐McMillin syndrome (JMS) is a rare neuroectodermal disorder characterized by alopecia, ear malformations, conductive hearing loss, anosmia/hyposmia, and hypogonadotropic hypogonadism. It is inherited in an autosomal dominant manner; however, the causative gene has

Confirmation of the colobomatous macroph

Confirmation of the colobomatous macrophthalmia with microcornea syndrome: Report of another family

✍ Pallotta, Rosanna; Fusilli, Paola; Sabatino, Giuseppe; Verrotti, Alberto; Chiare 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 9 KB 👁 2 views

We report on the occurence of microcornea, coloboma, and macrophthalmia in 4 generations of an Italian family. The patients had no additional physical anomalies, were of normal intelligence, and had a normal karyotype. This condition has been reported in only 1 family [Bateman and

IVIC syndrome: Report of a third family

✍ Czeizel, A. ;Göblyös, P. ;Kodaj, I. 📂 Article 📅 1989 🏛 John Wiley and Sons 🌐 English ⚖ 159 KB 👁 2 views

Letter to the Editor ## IVIC Syndrome: Report of a Third Family To the Editor: After the report of a second family with IVIC syndrome

IVIC Syndrome. Report of a second family

✍ Sammito, V. ;Motta, D. ;Capodieci, G. ;Sanfilippo, S. ;Neri, G. ;Optiz, John M. 📂 Article 📅 1988 🏛 John Wiley and Sons 🌐 English ⚖ 446 KB 👁 1 views

Say syndrome: Report of a familial case

✍ Pagnan, Nina Am�lia Brancia; Ribeiro, Enilze Maria de Souza Fonseca; Poerner, Fa 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 19 KB 👁 2 views

We describe a new case of Say syndrome. This syndrome is an autosomal dominant condition characterized by cleft palate, short stature of prenatal onset, large protruding ears and microcephaly, delayed bone age, and renal anomalies. The first report was in 1975 by Say et al. in three generations of a