dominant and autosomal recessive forms exist. [radiopaedia.org]

In autosomal dominant form of the symptoms are mild, some signs nonexistent. Autosomal recessive inheritance is more pronounced. [health-and-beaty.blogspot.com]

The autosomal recessive form tends to be more severe than the autosomal dominant variant. [dovemed.com]

Whereas the X-linked recessive form is well documented, information is scantier on the autosomal dominant and autosomal recessive forms. [checkorphan.org]

autosomal dominant, and autosomal recessive forms and present state of DNA studies. [anesthesiology.pubs.asahq.org]

Autosomal dominant form In the autosomal dominant form, symptoms often appear somewhat later than in the autosomal recessive form. They are also a little milder. [socialstyrelsen.se]

One autosomal dominant and two autosomal recessive forms have been described, but acquired forms also occur. synonyms Cutis Laxa, Dermatochalasis, Limp Skin UMLS Chalazoderma [dermis.net]

Mutations in the gene encoding fibulin-5 (FBLN5) can cause either autosomal dominant or a more severe autosomal recessive form of cutis laxa. [medicinenet.com]

In general, the autosomal recessive forms of cutis laxa tend to be more severe than the autosomal dominant forms. [ghr.nlm.nih.gov]

dominant and autosomal recessive forms exist. [radiopaedia.org]

There are two forms of this condition, an autosomal recessive and an autosomal dominant form. [diseaseinfosearch.org]

In autosomal dominant form of the symptoms are mild, some signs nonexistent. Autosomal recessive inheritance is more pronounced. [health-and-beaty.blogspot.com]

Inheritance can be autosomal recessive, autosomal dominant, or X-linked recessive with the most severe forms being autosomal recessive. [malacards.org]

Osteopetrosis occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence [malacards.org]

Recessive osteopetrosis commonly manifests in early infancy with macrocephaly, feeding difficulties, evolving blindness and deafness, bone marrow failure, severe anemia, and [malacards.org]

Mutations in other genes are less common causes of autosomal dominant and autosomal recessive forms of the disorder. [ghr.nlm.nih.gov]

A few individuals have been diagnosed with intermediate autosomal osteopetrosis (IAO), a form of the disorder that can have either an autosomal dominant or an autosomal recessive [ghr.nlm.nih.gov]

Autosomal dominant osteopetrosis is the most common form of the disorder, affecting about 1 in 20,000 people. [ghr.nlm.nih.gov]

Inheritance can be autosomal recessive, autosomal dominant, or X-linked recessive with the most severe forms being autosomal recessive. [malacards.org]

Mutations in other genes are less common causes of autosomal dominant and autosomal recessive forms of the disorder. [ghr.nlm.nih.gov]

These conditions can be inherited as autosomal recessive, dominant or X-linked traits with the most severe forms being autosomal recessive. [jclpca.org]

The disease is inherited most commonly in a severe autosomal recessive form, or as a relatively benign, autosomal dominant form. [unboundmedicine.com]

In general, the autosomal recessive forms of cutis laxa tend to be more severe than the autosomal dominant forms. [ghr.nlm.nih.gov]

There are 4 hereditary forms: Autosomal dominant X-linked recessive 2 autosomal recessive The autosomal recessive forms tend to be more common, and one of them causes potentially [merckmanuals.com]

X-linked recessive, autosomal dominant and autosomal recessive forms of the disease are recognized. [europeanmedical.info]

In most cases, the inheritance pattern is X-linked recessive, while autosomal dominant and autosomal recessive forms have been reported. [genome.jp]

Men are more affected than women and X-linked recessive, autosomal dominant and autosomal recessive forms of the disease are recognised. [scielo.br]

dominant and autosomal recessive forms exist. [medical-dictionary.thefreedictionary.com]

The autosomal dominant form of KCS (KCS type 2 [KCS2]) is distinguished from the autosomal recessive form of KCS (KCS type 1 [KCS1]), which is caused by mutations of the tubulin‐folding [ingentaconnect.com]

dominant and autosomal recessive forms exist, caused by mutation in the gene encoding tubulin-specific chaperone E on 1q. [medical-dictionary.thefreedictionary.com]