A New Hereditary Syndrome – Sex-linked Deaf-mutism Associated with Total Albinism
- 1 January 1962
- journal article
- research article
- Published by S. Karger AG in Human Heredity
- Vol. 12 (1) , 12-19
- https://doi.org/10.1159/000151176
Abstract
Sex linked deaf-mutism associated with complete albinism transmitted as recessive in an extensive pedigree is described. The condition is assumed to be a new hereditary syndrome produced by a single x-borne mutant gene affecting the development of the neural crest[long dash]the common embryological origin of the ear vesicle and body pigment.Keywords
This publication has 2 references indexed in Scilit:
- SEX-LINKED HEREDITARY DEAFNESS1955
- A NEW SYNDROME COMBINING DEVELOPMENTAL ANOMALIES OF THE EYELIDS, EYEBROWS AND NOSE ROOT WITH PIGMENTARY DEFECTS OF THE IRIS AND HEAD HAIR AND WITH CONGENITAL DEAFNESS - DYSTOPIA-CANTHI MEDIALIS ET PUNCTORUM LACRIMALIUM LATEROVERSA, HYPERPLASIA SUPERCILII MEDIALIS ET RADICIS NASI, HETEROCHROMIA IRIDUM TOTALIS SIVE PARTIALIS, ALBINISMUS CIRCUMSCRIPTUS (LEUCISMUS, POLIOSIS), ET SURDITAS CONGENITA (SURDIMUTITAS)1951