Abstract 3p deletion syndrome is a rare disorder involving developmental delay, dysmorphic
physical features, and growth retardation. Molecular mapping of several cases in the …

Background: The identification of the molecular basis of disorders of keratinisation has
significantly advanced our understanding of skin biology, revealing new information on key …

MTHFR polymorphisms C677T and A1298C are associated with reduced MTHFR enzyme
activity and hyperhomocysteinemia, which has been associated with osteoporosis. The …

Background Hypotrichosis simplex of the scalp (HSS; MIM 146520) is a rare autosomal
dominant form of non‐syndromic alopecia that affects men and women equally. Up to now …

Aim: To investigate the relationships of polymorphisms in genes whose protein products are
related in the metabolic pathway of folic acid, particularly MTRR A66G, RFC1 G80A, and …

Background: Atopic dermatitis (AD) is a chronic multifactorial allergic disease with unclear
etiology. The antimicrobial human β-defensin 1 is chemotactic for dendritic cells, which are …

Myhre syndrome is a rare disorder characterized by low birthweight, short stature, mental
retardation, facial dysmorphism (blepharophimosis, midfacial hypoplasia, prognathism) …

Myhre syndrome: first female case : Clinical Dysmorphology Myhre syndrome: first female case :
Clinical Dysmorphology Log in or Register Subscribe to journalSubscribe Get new issue …

A patient aged 10 years and 8 months with a ring-20-syndrome was studied. Clinically he
presented normal psychomotor development until 25 months of age when he began with …

Wide clinical spectrum in Zimmermann-Laband syndrome: Gingival fibromatosis can be
present as an isolated form or be part of a genetic disease. The Zimmermann-Laband …