Ulnar ray a/hypoplasia: evidence for a developmental field defect on the basis of genetic heterogeneity. Report of three Brazilian families.


Autoria(s): Richieri-Costa, A.; Opitz, J. M.
Contribuinte(s)

Universidade Estadual Paulista (UNESP)

Data(s)

26/05/2014

26/05/2014

01/12/1986

Resumo

We report on five Brazilian patients from three unrelated families with congenital anomalies of the upper limbs. Ulnar aplasia/hypoplasia was the main reason for examining these patients. Evidence for existence of an ulnar developmental field is based on genetic heterogeneity. Clinical and genetic aspects of the ulnar ray defects are discussed.

Formato

195-206

Identificador

http://dx.doi.org/10.1002/ajmg.1320250624

American journal of medical genetics. Supplement, v. 2, p. 195-206.

1040-3787

http://hdl.handle.net/11449/63774

10.1002/ajmg.1320250624

2-s2.0-0022932236

Idioma(s)

eng

Relação

American journal of medical genetics. Supplement

Direitos

closedAccess

Palavras-Chave #congenital malformation #embryology #infant #preschool child #radiography #recessive gene #syndrome #ulna #Support, Non-U.S. Gov't #Syndrome
Tipo

info:eu-repo/semantics/article