Results 91 to 100 of about 812 (180)

Jornal of medical genetics

, 1973
p. 389-392Two families with cryptophthalmos are reported. Both families came from the same town in Bahia State, Brazil. Consanguinity was known between the parents themselves, but not between the individual families reported here.
Azevedo, Eliane Elisa de Souza e, Biondi, Jesulino, Ramalho, Luiz M.   +2 more
core  

Roberts syndrome presenting with bilateral Cryptophthalmos: a case report. [PDF]

Oxf Med Case Reports
Fareed MU, Rehman A, Shehryar A, Singla S, Singla B, Mazari S.   +5 more
europepmc   +1 more source

A Rare Case of Fraser Syndrome with Partial Vaginal Agenesis and Its Successful Reconstructive Cosmetic Management: A Case Report. [PDF]

J Obstet Gynaecol India, 2022
Panigrahi S, Mohapatra K, Pradhan M, Mishra S, Samal S.   +4 more
europepmc   +1 more source

Fraser Syndrome in a Newborn: Diagnostic Challenges Based on Clinical Criteria. [PDF]

Cureus
Ettoini K, Mesbah K, Elboussaadni Y, Oulmaati A.   +3 more
europepmc   +1 more source

The Fraser Complex Proteins (Frem1, Frem2, and Fras1) Can Form Anchoring Cords in the Absence of AMACO at the Dermal-Epidermal Junction of Mouse Skin. [PDF]

Int J Mol Sci, 2023
Esho T, Kobbe B, Tufa SF, Keene DR, Paulsson M, Wagener R.   +5 more
europepmc   +1 more source

Prenatal Diagnosis of Fraser Syndrome at 20 Weeks' Gestation: A Case Report and Review of Literature. [PDF]

Cureus
Rana S.
europepmc   +1 more source

Two novel mutations within FREM1 gene in patients with bifid nose. [PDF]

BMC Pediatr, 2023
Chen X, Yu B, Wang Z, Li Q, Dai C, Wei J.   +5 more
europepmc   +1 more source

Síndrome de FRASER: primer caso reportado en Nicaragua

Fraser síndrome is a genetic syndrome with autosomal recessive inheritance. It present with many congenital anomalies, but predominantly includes the presence of uni or bilateral cryptophthalmos, cutaneous syndactyly and genitourinary anomalies. A number
Talavera, Nubia, Mejía-Baltodano, Gerardo, Vallejos, María Lisseth, Jirón , Alejandra, Alemán, Violeta, Montenegro, Alba Nubia   +5 more
core  

Failure to Fuse Shut Eyelids, a Novel Unique Sign in Affected Fetus with Homozygous PPP1R13L Pathogenic Variant-A Case Report and Review of the Literature. [PDF]

Int J Mol Sci
Shalata Z, Mintz H, Haddad S, Osman K, Mahroum M, Hadid Y, Shalata A.   +6 more
europepmc   +1 more source

Embryodysgenesis of the Lids and Orbit. [PDF]

Eye (Lond)
Katowitz JA, Ataei Y, Bhoj EJ, Taylor JA.   +3 more
europepmc   +1 more source