Pregled bibliografske jedinice broj: 263595
Daughter and Her Mildly Affected Father With Keipert Syndrome
Daughter and Her Mildly Affected Father With Keipert Syndrome // American journal of medical genetics. Part A, 140A (2006), 22; 2488-2492 (podatak o recenziji nije dostupan, članak, stručni)
CROSBI ID: 263595 Za ispravke kontaktirajte CROSBI podršku putem web obrasca
Naslov
Daughter and Her Mildly Affected Father With Keipert
Syndrome
Autori
Dumic, Miroslav ; Dovzak Kokic, Durda ; Matic, Toni ; Potocki, Kristina
Izvornik
American journal of medical genetics. Part A (1552-4825) 140A
(2006), 22;
2488-2492
Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, stručni
Ključne riječi
broad terminal phalanges ; sensorineural deafness ; unusual facies ; hoarse voice
Sažetak
A ten-year old girl with characteristic features of Keipert syndrome (broad terminal phalanges, especially of the thumb and hallux, sensorineural deafness, unusual facial features, large head circumference, maxillary hypoplasia, hoarse voice) and her mildly affected father (broad terminal phalanges, especially of the thumb and hallux, large head circumference, maxillary hypoplasia and hoarse voice) are presented. The girl is the first reported female with this rare syndrome to date, and the fact that she probably inherited the disease from her father suggests an autosomal dominant pattern of inheritance.
Izvorni jezik
Engleski
Znanstvena područja
Kliničke medicinske znanosti
Citiraj ovu publikaciju:
Časopis indeksira:
- Current Contents Connect (CCC)
- Web of Science Core Collection (WoSCC)
- Science Citation Index Expanded (SCI-EXP)
- SCI-EXP, SSCI i/ili A&HCI
- Scopus
- MEDLINE
