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Pregled bibliografske jedinice broj: 380870

A case report of a very rare familial translocation of gonosome and autosome X.21 and literature review.


Čulić Vida, Lozić Bernarda, Čulić Srđana, Rešić Biserka, Tomasović Maja
A case report of a very rare familial translocation of gonosome and autosome X.21 and literature review. // Paediatria Croatica, 48 (2004), Suppl 2; 25-25 (podatak o recenziji nije dostupan, kongresno priopćenje, sažeci, znanstveni)


CROSBI ID: 380870 Za ispravke kontaktirajte CROSBI podršku putem web obrasca

Naslov
A case report of a very rare familial translocation of gonosome and autosome X.21 and literature review.

Autori
Čulić Vida, Lozić Bernarda, Čulić Srđana, Rešić Biserka, Tomasović Maja

Izvornik
Paediatria Croatica (1330-1403) 48 (2004), Suppl 2; 25-25

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, kongresno priopćenje, sažeci, znanstveni

Ključne riječi
familial translocation; gonosome and autosome X.21
(amilial translocation; gonosome and autosome X.21)

Sažetak
We present very rare, not yet reported, familial unbalanced translocation of the gonosome and autosome (X and 21) of patient with short stature, microcephaly, a coarse face, bluish sclera, antimongoloid slant palpebral fissures with long eye-lashes and accented eyebrows, very malformed ears with primitive shape of the ears and vera large earlobes and creases on both the front and back sides of the earlobe with other dismorphy of the face.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti, Kliničke medicinske znanosti



POVEZANOST RADA


Ustanove:
KBC Split,
Medicinski fakultet, Split

Profili:

Avatar Url Vida Čulić (autor)

Avatar Url Biserka Rešić (autor)

Avatar Url Srđana Čulić (autor)

Avatar Url Maja Tomasović (autor)


Citiraj ovu publikaciju

Čulić Vida, Lozić Bernarda, Čulić Srđana, Rešić Biserka, Tomasović Maja
A case report of a very rare familial translocation of gonosome and autosome X.21 and literature review. // Paediatria Croatica, 48 (2004), Suppl 2; 25-25 (podatak o recenziji nije dostupan, kongresno priopćenje, sažeci, znanstveni)
Čulić Vida, Lozić Bernarda, Čulić Srđana, Rešić Biserka, Tomasović Maja (2004) A case report of a very rare familial translocation of gonosome and autosome X.21 and literature review.. Paediatria Croatica, 48 (Suppl 2), 25-25.
@article{article, year = {2004}, pages = {25-25}, keywords = {familial translocation, gonosome and autosome X.21}, journal = {Paediatria Croatica}, volume = {48}, number = {Suppl 2}, issn = {1330-1403}, title = {A case report of a very rare familial translocation of gonosome and autosome X.21 and literature review.}, keyword = {familial translocation, gonosome and autosome X.21} }
@article{article, year = {2004}, pages = {25-25}, keywords = {amilial translocation, gonosome and autosome X.21}, journal = {Paediatria Croatica}, volume = {48}, number = {Suppl 2}, issn = {1330-1403}, title = {A case report of a very rare familial translocation of gonosome and autosome X.21 and literature review.}, keyword = {amilial translocation, gonosome and autosome X.21} }

Časopis indeksira:


  • Scopus


Uključenost u ostale bibliografske baze podataka:


  • EMBASE (Excerpta Medica)





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